Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C8orf33_chr8_145047467_145061030	145052242	CCGCCCCG others(80): Show CCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCC GCCCGCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02735.hp1 NA19011.hp2 others(2): Show HG02258.hp1 HG02735.hp1 NA19011.hp2 NA19064.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0002 a0001c0001t0023g0001	5	288	0.0174	-87	c.-24 others(96): Show c.-249_-163delCGCCCCGCCCGCTCCCCGCCCCGCCCGCGCCCCGCC CGCGCCCCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCC G	C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding		224		chr8	TogoVar
CA1_chr8_85322608_85383113	85344172	TGTATATA others(80): Show TGTATATAATATATAATTATATATTATACAGTATATAATATAATTATATT ATATACAGTATATAATATATAATTATATATTATATACA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01261.hp2 others(16): Show HG01070.hp1 HG01106.hp1 HG01261.hp2 HG02055.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0033 a0001c0001t0001g0131 a0001c0001t0001g0132 others(14): Show a0001c0001t0001g0033 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0215 a0001c0001t0002g0209 a0003c0003t0001g0025 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143	19	322	0.0590	-87	c.-24 others(104): Show c.-24-2600_-24-2514delTGTATATAATATATAATTATATATTATA TACTGTATATAATATAATTATATTATATACTGTATAATATATAATTATAT ATTATATAC	CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7			chr8	TogoVar
CACNG3_chr16_24251335_24367412	24317626	GACAGACA others(80): Show GACAGACAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG01258.hp2 others(27): Show HG00735.hp1 HG01256.hp1 HG01258.hp2 HG02015.hp1 HG02040.hp1 HG02135.hp2 HG02280.hp2 HG02486.hp1 HG02723.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 NA18939.hp1 NA18946.hp2 NA18953.hp1 NA18957.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA19002.hp1 NA19004.hp2 NA19074.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0026 others(27): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0162 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0237 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0288 a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0001t0001g0355 a0001c0001t0002g0002 a0001c0001t0002g0116 a0001c0001t0005g0009	30	363	0.0826	-87	c.212 others(106): Show c.212-29106_212-29020delCAGACAGAAAGAAAGAAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK2B_chr7_44212154_44330594	44227416	GGGGGTGT others(80): Show GGGGGTGTGGGGGACAGGAGGGGGTGTGGAAGACAGAGGAAGTGTGGGGG ACAGAAGGGGGTATGGGGGGCAGGGGGTGGAGGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02559.hp2 others(1): Show HG00639.hp1 HG02451.hp1 HG02559.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0010 a0001c0014t0001 a0001c0001t0010 a0001c0014t0001	a0001c0001t0010g0175 a0001c0001t0010g0176 a0001c0014t0001g0027 others(1): Show a0001c0001t0010g0175 a0001c0001t0010g0176 a0001c0014t0001g0027 a0001c0014t0001g0034	4	240	0.0167	-87	c.146 others(104): Show c.1469-859_1469-773delTCTGTCCTCCACCCCCTGCCCCCCATAC CCCCTTCTGTCCCCCACACTTCCTCTGTCTTCCACACCCCCTCCTGTCCC CCACACCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CDC14B_chr9_96495113_96624843	96535708	AGGTAATC others(80): Show AGGTAATCCCAAACCAGTTTACTGGACTTAATGATCAACATGGGGAATCA GTCAGCCCATGTTCCATAATACAAAGGTCTAAACAGCC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp1 others(18): Show HG01109.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 others(1): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0017 a0001c0002t0018	a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 others(18): Show a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0031 a0001c0002t0004g0032 a0001c0002t0004g0108 a0001c0002t0004g0183 a0001c0002t0004g0203 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0007g0027 a0001c0002t0017g0033 a0001c0002t0018g0024	21	218	0.0963	-87	c.628 others(104): Show c.628-1253_628-1167delGGCTGTTTAGACCTTTGTATTATGGAAC ATGGGCTGACTGATTCCCCATGTTGATCATTAAGTCCAGTAAACTGGTTT GGGATTACC	CDC14B	ENSG00000081377.17	transcript	ENST00000375241.6	protein_coding	7/13			chr9	TogoVar
CDC34_chr19_526760_547087	534544	CCCCCGAG others(80): Show CCCCCGAGTACCCTCCCTGTCAAGGCCTCGCCCACGATCCAAGACCCCCG AGTGCCCGCCCTGTCCAGACCTCGCCCACGATCCAAGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp2 others(4): Show HG02145.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 others(4): Show a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057	7	326	0.0215	-87	c.178 others(104): Show c.178-1288_178-1202delGAGTACCCTCCCTGTCAAGGCCTCGCCC ACGATCCAAGACCCCCGAGTGCCCGCCCTGTCCAGACCTCGCCCACGATC CAAGACCCC	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEP112_chr17_65630537_66197133	65970377	TCATGCAT others(80): Show TCATGCATATATATTACATGCATGCACACATCATGCATGTATATTACATG CATGCACACATCATGCATGTATATTACATGCATGCACA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(11): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 NA18985.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0003 a0002c0001 a0003c0006 others(1): Show a0001c0003 a0002c0001 a0003c0006 a0005c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0003c0006t0001 a0003c0006t0002 a0005c0010t0001	a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 others(11): Show a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0009 a0001c0003t0001g0032 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0003c0006t0001g0022 a0003c0006t0002g0110 a0005c0010t0001g0010	14	110	0.1273	-87	c.173 others(106): Show c.1737-8866_1737-8780delTGTGCATGCATGTAATATACATGCAT GATGTGTGCATGCATGTAATATACATGCATGATGTGTGCATGCATGTAAT ATATATGCATG	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CHST7_chrX_46568765_46603496	46601461	ACCGAATC others(80): Show ACCGAATCGTTCATGGATAGCTGAGATACCCTTTTGCATGTTTTCTAAAG AGATTCCATTTGTCAGCCAAACCACAGAGGACATTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	309	0.0032	-87	c.37 others(98): Show c.3734_*3820delCCGAATCGTTCATGGATAGCTGAGATACCCTTTT GCATGTTTTCTAAAGAGATTCCATTTGTCAGCCAAACCACAGAGGACATT TTC	CHST7	ENSG00000147119.4	transcript	ENST00000276055.4	protein_coding		2966		chrX	TogoVar
CIB2_chr15_78099606_78136445	78125534	CTCCCTGT others(80): Show CTCCCTGTCACAATTACTTACACCTCCCTACATCAATGGTCCTCACGCTG TGGCTCCTGGACCAGCAGCATCAGCCTCACTGGGAACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	388	0.0026	-87	c.52- others(102): Show c.52-1882_52-1796delAGTTCCCAGTGAGGCTGATGCTGCTGGTCC AGGAGCCACAGCGTGAGGACCATTGATGTAGGGAGGTGTAAGTAATTGTG ACAGGGA	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding	1/5			chr15	TogoVar
CLDN8_chr21_30209006_30221097	30210272	CGTATGTG others(80): Show CGTATGTGTATATATATATATATATATATATATATATATATATATATATA TATATATAGTCTCCCTAATTCTAATTCAAGGTACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	433	0.0023	-87	c.48 others(98): Show c.4889_*4975delATATGTACCTTGAATTAGAATTAGGGAGACTATA TATATATATATATATATATATATATATATATATATATATATATATACACA TAC	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3733		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210279	GTATATAT others(80): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT AGTCTCCCTAATTCTAATTCAAGGTACATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03654.hp2 HG03490.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	200	0.0100	-87	c.48 others(98): Show c.4882_*4968delTATATATATATGTACCTTGAATTAGAATTAGGGA GACTATATATATATATATATATATATATATATATATATATATATATATAT ATA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3726		chr21	TogoVar
CLN8_chr8_1758789_1791570	1763557	GCCCCCCG others(80): Show GCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC CGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01346.hp1 NA18990.hp1 others(1): Show HG00673.hp1 HG01346.hp1 NA18990.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0089 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0089 a0002c0002t0008	a0001c0001t0001g0001 a0001c0001t0008g0080 a0001c0001t0089g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0008g0080 a0001c0001t0089g0001 a0002c0002t0008g0001	4	410	0.0098	-87	c.-45 others(96): Show c.-451_-365delCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCC CCCCGCCGCGCCCCGCCCCCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCC T	CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding		231		chr8	TogoVar
CLPTM1L_chr5_1312752_1350099	1326783	TACAGGGA others(80): Show TACAGGGACATTTCATCCAGCTCCTCCCCTACAGGGACATTTCATCCAGC TCCTCCTCGACAGACACATTTCATCCAGCTCCTCCTCG	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	368	0.0027	-87	c.108 others(105): Show c.1081-1054_1081-968delCGAGGAGGAGCTGGATGAAATGTGTCT GTCGAGGAGGAGCTGGATGAAATGTCCCTGTAGGGGAGGAGCTGGATGAA ATGTCCCTGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1327917	AGACACAT others(80): Show AGACACATTCCATCCAGCTCCTCCTCGACAGACACATTCCATCCAGCTCC TCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	367	0.0027	-87	c.108 others(106): Show c.1081-2188_1081-2102delCGTAGAGGAGGAGCTGGATGGAATGT GTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTGTCGAGGAGGAGCTGGA TGGAATGTGTC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CMKLR2_chr2_206170316_206218371	206172860	AGGGAGAC others(80): Show AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01099.hp1 others(19): Show HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01517.hp1 HG01943.hp2 HG02004.hp2 HG02055.hp2 HG02148.hp1 HG02273.hp2 HG02300.hp1 HG02970.hp1 HG03927.hp1 HG04228.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0003 a0002c0003t0001 a0002c0003t0003	a0002c0003t0001g0249 a0002c0003t0003g0001 a0002c0003t0003g0016 others(16): Show a0002c0003t0001g0249 a0002c0003t0003g0001 a0002c0003t0003g0016 a0002c0003t0003g0037 a0002c0003t0003g0154 a0002c0003t0003g0229 a0002c0003t0003g0233 a0002c0003t0003g0234 a0002c0003t0003g0235 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0241 a0002c0003t0003g0242 a0002c0003t0003g0243 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0273 a0002c0003t0003g0302 a0002c0003t0003g0303	22	236	0.0932	-87	c.32 others(98): Show c.3233_*3319delCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2455		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172885	AGGGAGAC others(80): Show AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	311	0.0032	-87	c.32 others(98): Show c.3208_*3294delCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCCTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2430		chr2	TogoVar
CNOT1_chr16_58514951_58634826	58580969	AACTGTTA others(80): Show AACTGTTAAAAGACATTTCTGAGCCAATTAGGGAAACTTAACGTTGCCTT GGAAATGAACATCATTAAACTATTGGGAAAACACCTTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0019 a0001c0021 a0002c0018 a0003c0011 a0004c0013 a0008c0012 a0009c0020 a0010c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0006 a0001c0005t0001 a0001c0006t0002 a0001c0008t0005 a0001c0008t0008 a0001c0010t0001 a0001c0019t0001 a0001c0021t0004 a0002c0018t0001 a0003c0011t0001 a0004c0013t0001 a0008c0012t0001 a0009c0020t0001 a0010c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(213): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0295 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0007g0233 a0001c0001t0009g0167 a0001c0002t0001g0077 a0001c0003t0002g0003 a0001c0003t0002g0004 a0001c0003t0002g0012 a0001c0003t0002g0013 a0001c0003t0002g0014 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0018 a0001c0003t0002g0019 a0001c0003t0002g0020 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0030 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0038 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0046 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0051 a0001c0003t0002g0052 a0001c0003t0002g0139 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0285 a0001c0004t0001g0286 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 a0001c0004t0001g0291 a0001c0004t0001g0292 a0001c0004t0001g0296 a0001c0004t0001g0297 a0001c0004t0006g0293 a0001c0004t0006g0294 a0001c0005t0001g0195 a0001c0005t0001g0218 a0001c0005t0001g0225 a0001c0005t0001g0226 a0001c0005t0001g0227 a0001c0005t0001g0228 a0001c0006t0002g0184 a0001c0006t0002g0185 a0001c0006t0002g0186 a0001c0006t0002g0187 a0001c0006t0002g0188 a0001c0006t0002g0189 a0001c0008t0005g0140 a0001c0008t0005g0141 a0001c0008t0008g0304 a0001c0010t0001g0272 a0001c0019t0001g0193 a0001c0021t0004g0031 a0002c0018t0001g0164 a0003c0011t0001g0219 a0004c0013t0001g0143 a0008c0012t0001g0231 a0009c0020t0001g0152 a0010c0022t0001g0173	217	306	0.7092	-87	c.121 others(104): Show c.1215+289_1216-210delCAAGGTGTTTTCCCAATAGTTTAATGAT GTTCATTTCCAAGGCAACGTTAAGTTTCCCTAATTGGCTCAGAAATGTCT TTTAACAGT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	11/48			chr16	TogoVar
COL26A1_chr7_101357875_101564024	101489667	TCCTTCCT others(80): Show TCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTTCATT CTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0064 a0002c0004t0001g0103 a0001c0001t0002g0064 a0002c0004t0001g0103	2	163	0.0123	-87	c.385 others(106): Show c.385+41881_385+41967delCCTTCCTTCCTTCCTTTCTTTCTTTC TTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTT TCTTTCTTGTC	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(80): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTCTCTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0089 a0001c0014t0009g0089	1	115	0.0087	-87	c.385 others(106): Show c.385+41926_385+42012delCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTTGTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL5A1_chr9_134636803_134849843	134829339	CGAGGGCT others(80): Show CGAGGGCTGGGGCCAGGCTCATCCTCACGCGGCCTCCGGTCTCCCCGAGG GCCCAGGTCAGGCTCCTCACGCAGCCTCCGGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0059 a0003c0059	a0003c0059t0040 a0003c0059t0040	a0003c0059t0040g0194 a0003c0059t0040g0194	1	259	0.0039	-87	c.506 others(104): Show c.5068-580_5068-494delTCAGGCTCCTCACGCAGCCTCCGGTCTC CCTGAGGGCTGGGGCCAGGCTCATCCTCACGCGGCCTCCGGTCTCCCCGA GGGCCCAGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134829426	TGAGGGCT others(80): Show TGAGGGCTGGGGCCAGGCTCATCCTCACGCGGCCTCCGGTCTCCCCGAGG GCCCAGGCCGGGCTCCTCACGCAGCCTCCAGTCTCCCC	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0002 a0001c0027t0002	a0001c0027t0002g0090 a0001c0027t0002g0090	1	266	0.0038	-87	c.506 others(104): Show c.5068-530_5068-444delATCCTCACGCGGCCTCCGGTCTCCCCGA GGGCCCAGGCCGGGCTCCTCACGCAGCCTCCAGTCTCCCCGAGGGCTGGG GCCAGGCTC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRELD2_chr22_49913634_49932537	49926655	TGGGTCCC others(80): Show TGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCC CTCCCTCCCCCCCTCTTGCCCCTCCCTCCCCCCACCCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02040.hp2 HG02083.hp1 others(11): Show HG01255.hp1 HG02040.hp2 HG02083.hp1 HG02257.hp1 HG02451.hp1 HG02717.hp1 HG03017.hp2 HG03130.hp2 HG03471.hp1 HG03471.hp2 NA18943.hp1 NA18947.hp2 NA19004.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0002c0002t0001 a0004c0006t0004 a0001c0001t0001 a0002c0002t0001 a0004c0006t0004	a0001c0001t0001g0075 a0001c0001t0001g0076 a0002c0002t0001g0009 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0002c0002t0001g0009 a0002c0002t0001g0016 a0002c0002t0001g0027 a0004c0006t0004g0029 a0004c0006t0004g0030	14	293	0.0478	-87	c.101 others(104): Show c.1010-538_1010-452delCTCTTGCCCCTCCCTCCCCCCACCCCGG GTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTC CCTCCCCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924097	CCCCCCAC others(80): Show CCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0155 a0003c0003t0001g0155	1	311	0.0032	-87	c.488 others(104): Show c.488+1458_489-1535delACACTAACCCGGCCCCCCACACTAACCC AGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNK1A1_chr5_149487982_149556439	149542605	TATATATA others(80): Show TATATATATATATATATATATATATATATATATATGTATATATATATATA TATATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18988.hp2 HG02165.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0179 a0001c0001t0007g0180 a0001c0001t0007g0179 a0001c0001t0007g0180	2	388	0.0052	-87	c.230 others(104): Show c.230+7383_230+7469delTATATATATATATATATATACATATATA TATATATATATATATATATATATACATATATATATATATATATATATATA TATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542606	ATATATAT others(80): Show ATATATATATATATATATATATATATATATATATGTATATATATATATAT ATATATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG02015.hp1 others(30): Show HG00597.hp1 HG00609.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02523.hp2 NA18612.hp2 NA18940.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18986.hp1 NA18995.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0033 a0001c0001t0006 a0001c0001t0007 a0001c0001t0033	a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 others(30): Show a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0198 a0001c0001t0006g0203 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0216 a0001c0001t0006g0217 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0312 a0001c0001t0007g0004 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0193 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0197 a0001c0001t0007g0199 a0001c0001t0007g0200 a0001c0001t0007g0201 a0001c0001t0007g0207 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0033g0213	33	375	0.0880	-87	c.230 others(104): Show c.230+7382_230+7468delATATATATATATATATATATACATATAT ATATATATATATATATATATATATACATATATATATATATATATATATAT ATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542608	ATATATAT others(80): Show ATATATATATATATATATATATATATATATATGTATATATATATATATAT ATATATATATATATGTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18977.hp2 NA19055.hp2 NA18972.hp2 NA18977.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0202 a0001c0001t0007g0204 a0001c0001t0007g0004 a0001c0001t0007g0202 a0001c0001t0007g0204	3	376	0.0080	-87	c.230 others(104): Show c.230+7380_230+7466delAAATATATATATATATATATATACATAT ATATATATATATATATATATATATATACATATATATATATATATATATAT ATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CST9L_chr20_23559732_23573484	23560997	TTCCTTCC others(80): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA19074.hp1 HG02080.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	383	0.0052	-87	c.38 others(98): Show c.3864_*3950delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAA GGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3734		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561005	TTCCTTCC others(80): Show TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02723.hp2 HG03491.hp2 others(4): Show HG00438.hp1 HG02723.hp2 HG03491.hp2 HG03654.hp2 NA18942.hp1 NA18999.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0051 a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0051	7	386	0.0181	-87	c.38 others(98): Show c.3856_*3942delGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAA GGA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3726		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561007	CCTTCCTT others(80): Show CCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	383	0.0026	-87	c.38 others(98): Show c.3854_*3940delAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGG AAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3724		chr20	TogoVar
CSTPP1_chr11_46931761_47167247	46991927	GACGGGGT others(80): Show GACGGGGTTTCACCGTGTTAGCCAGGCTTGTCTTGAACTCCTGGCCTCAA GTGATCTGCCCGCCTTGGCATCCCAAAGTGTTGGGATT	G G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	222	0.0045	-87	c.149 others(104): Show c.149+4619_149+4705delCGGGGTTTCACCGTGTTAGCCAGGCTTG TCTTGAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCATCCCAAAGTG TTGGGATTA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CTDP1_chr18_79674803_79759503	79734524	CGGGCTGC others(80): Show CGGGCTGCCCTGCCTCACCAGCGTTGGCACGGACGTCTGAGGCCCTCCCA GGTGGGGCGCCACACTAGCGAGGGTCCCTCGGGTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG04228.hp1 HG01884.hp1 HG02280.hp1 HG04228.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0015 a0001c0013t0001 a0001c0013t0015	a0001c0013t0001g0095 a0001c0013t0001g0096 a0001c0013t0015g0196 a0001c0013t0001g0095 a0001c0013t0001g0096 a0001c0013t0015g0196	3	376	0.0080	-87	c.258 others(106): Show c.2581-1822_2581-1736delCTGCCTCACCAGCGTTGGCACGGACG TCTGAGGCCCTCCCAGGTGGGGCGCCACACTAGCGAGGGTCCCTCGGGTC CGTGGGCTGCC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CUL4A_chr13_113204613_113272108	113215750	AGAGGTCG others(80): Show AGAGGTCGCTGTGTGACTATGGAGGTCTCGTCTGTGTGGCTGTGGAGGTC GCTGTGTGACTATGGAGGTCGCGTCCCATGTGGCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(130): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03710.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0001c0011 others(3): Show a0001c0001 a0001c0009 a0001c0011 a0002c0002 a0002c0013 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0009t0010 a0001c0011t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0002c0013t0001 a0003c0004t0002	a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 others(119): Show a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0003g0045 a0001c0001t0010g0006 a0001c0001t0010g0128 a0001c0001t0010g0129 a0001c0001t0011g0138 a0001c0001t0011g0139 a0001c0001t0011g0140 a0001c0001t0011g0141 a0001c0001t0012g0036 a0001c0001t0012g0110 a0001c0009t0010g0006 a0001c0011t0001g0111 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0003g0070 a0002c0002t0004g0083 a0002c0002t0015g0058 a0002c0002t0015g0098 a0002c0013t0001g0042 a0003c0004t0002g0117 a0003c0004t0002g0133 a0003c0004t0002g0136 a0003c0004t0002g0137	133	394	0.3376	-87	c.265 others(104): Show c.265-3163_265-3077delTGTGTGGCTGTGGAGGTCGCTGTGTGAC TATGGAGGTCGCGTCCCATGTGGCTGTGGAGGTCGCTGTGTGACTATGGA GGTCTCGTC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYTH4_chr22_37277508_37320341	37294149	AGGCAGGG others(80): Show AGGCAGGGTGGAGGCGGGCAGGGTGGAGGTGGGCTGGGGGAGGTGGGCAG GGTGGAGGCGGGCGGGGGGTGCAGGCAGGGTGGAGGTG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	402	0.0025	-87	c.103 others(102): Show c.103-461_103-375delGGTGGAGGCGGGCGGGGGGTGCAGGCAGGG TGGAGGTGGGCAGGGTGGAGGCGGGCAGGGTGGAGGTGGGCTGGGGGAGG TGGGCAG	CYTH4	ENSG00000100055.21	transcript	ENST00000248901.11	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
DGKB_chr7_14140049_14907751	14211317	TATTTACT others(80): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03130.hp1 HG03139.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0003 a0001c0002t0009 a0001c0008t0003 a0001c0002t0003 a0001c0002t0009 a0001c0008t0003	a0001c0002t0003g0027 a0001c0002t0009g0064 a0001c0008t0003g0077 a0001c0002t0003g0027 a0001c0002t0009g0064 a0001c0008t0003g0077	3	98	0.0306	-87	c.212 others(108): Show c.2123-33253_2123-33167delTATCACAAAACATGAGAGTAAAAT CACAAAACACGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211360	TATTTACT others(80): Show TATTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTAC TCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0115 a0001c0004t0001g0115	1	121	0.0083	-87	c.212 others(108): Show c.2123-33296_2123-33210delTATCACAAAACACGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAAATCACAAAA CACGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211553	TATTTACT others(80): Show TATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTAC TCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0094 a0001c0003t0003g0094	1	117	0.0085	-87	c.212 others(108): Show c.2123-33489_2123-33403delTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAATATCACAAAA CATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211917	TATTTACT others(80): Show TATTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03579.hp2 HG00639.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0013 a0001c0003 a0001c0013	a0001c0003t0005 a0001c0013t0017 a0001c0003t0005 a0001c0013t0017	a0001c0003t0005g0131 a0001c0013t0017g0084 a0001c0003t0005g0131 a0001c0013t0017g0084	2	131	0.0153	-87	c.212 others(108): Show c.2123-33853_2123-33767delTATCACAAAACATGAGAGTAAATA TCACAAAACATGAGAGTAAAATCACAAAACACGAGAGTAAAATCACAAAA CATGAGAGTAAAT	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHRS12_chr13_51762993_51809163	51776011	CCTACATG others(80): Show CCTACATGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATT CTACAGTATTCTCCTACATGTATTCTCCTACATGTATT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04204.hp1 NA19088.hp2 HG03704.hp1 HG04204.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0252 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0252	3	418	0.0072	-87	c.363 others(103): Show c.363+962_363+1048delAATACATGTAGGAGAATACATGTAGGAGA ATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAAT ACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHRSX_chrX_2214506_2505976	2277162	GAGAGAAA others(80): Show GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02293.hp2 HG02717.hp1 HG01261.hp1 HG02293.hp2 HG02717.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0005 a0003c0003t0013 a0004c0004t0003 a0003c0003t0005 a0003c0003t0013 a0004c0004t0003	a0003c0003t0005g0006 a0003c0003t0013g0002 a0004c0004t0003g0010 a0003c0003t0005g0006 a0003c0003t0013g0002 a0004c0004t0003g0010	3	47	0.0638	-87	c.389 others(106): Show c.389-10302_389-10216delTTCCCCCATTTCCTCCTCTTCCTTCT CTCTCCCTCTCTCGTTTGCCCTCCCTCTCTCTCCCTGTTCCCTCTCCATC TCTCTTTCTCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2277749	AGAGGGAG others(80): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0006 a0003c0003t0005g0006	1	44	0.0227	-87	c.389 others(106): Show c.389-10889_389-10803delGTTTGCCCTCCCTCTCTCTCCCCGTT CCCTCTCCATCTCTCTTTCTCTCTCTTTCCCCCATTTCCTCCTCCTCCTT CTCTCTCCCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2280931	CGAGAGGG others(80): Show CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	48	0.0208	-87	c.388 others(106): Show c.388+10484_388+10570delTCGTTTGCCCTCCCTCTCTCTCCCCG TTCCCTCTCCATCTCTCTCTCTCTTTCCCCCATTTCCTCCTCTTCCTTCT CTCTCCCTCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2C_chr10_269201_694668	623623	GGAGGGGA others(80): Show GGAGGGGAAGGAAGGACGCAGGGGCGAGGGGAAGAGGGGAGGGATGCAAG GCTGAAGGGAGGAGGGGAGGGACGCAGGGCCGAGGGCT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	88	0.0114	-87	c.85+ others(104): Show c.85+65784_85+65870delAGCCCTCGGCCCTGCGTCCCTCCCCTCC TCCCTTCAGCCTTGCATCCCTCCCCTCTTCCCCTCGCCCCTGCGTCCTTC CTTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIS3L2_chr2_231956713_232342192	232333149	ACCTCCTC others(80): Show ACCTCCTCCTTCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCGCTGTCGCCTCCTCCT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG02055.hp2 others(27): Show HG00621.hp1 HG01243.hp2 HG02055.hp2 HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(1): Show a0001c0001 a0001c0003 a0001c0010 a0002c0004	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0007 a0001c0010t0001 a0002c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0120 a0001c0001t0001g0144 others(27): Show a0001c0001t0001g0008 a0001c0001t0001g0120 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0003t0001g0141 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0159 a0001c0003t0001g0177 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0007g0151 a0001c0003t0007g0155 a0001c0010t0001g0157 a0002c0004t0001g0201 a0002c0004t0001g0202	30	301	0.0997	-87	c.201 others(104): Show c.2011-681_2011-595delTCTCCTCCTCCGCTGTCGCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCGCTGTCGCCTCCTCCT CCTCCTCCT	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L2_chr2_231956713_232342192	232333159	TCTCCTCC others(80): Show TCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCGCTGTCGCCTCCTCCTCCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	272	0.0037	-87	c.201 others(104): Show c.2011-647_2011-561delCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCTGTCGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCGCTGTCGCCTCCTC CTCCTCCTC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLG5_chr10_77785791_77931755	77888988	GAAGCCCA others(80): Show GAAGCCCACAGGTAACCTCCCAGGCCTCACAAGCCCACAGGTAACCTCCC AGGCCTCACAAGCCCACAGGTAACCTCCCAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18939.hp2 NA18967.hp2 others(1): Show HG02155.hp2 NA18939.hp2 NA18967.hp2 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0024 a0001c0002t0002 a0001c0002t0024	a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0241 others(1): Show a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0241 a0001c0002t0024g0222	4	250	0.0160	-87	c.305 others(106): Show c.305-19878_305-19792delGTGAGGCCTGGGAGGTTACCTGTGGG CTTGTGAGGCCTGGGAGGTTACCTGTGGGCTTGTGAGGCCTGGGAGGTTA CCTGTGGGCTT	DLG5	ENSG00000151208.17	transcript	ENST00000372391.7	protein_coding	1/31			chr10	TogoVar
DMD_chrX_31114222_33216549	31528153	ATTTATTT others(80): Show ATTTATTTTATTTCTAAAGAACATACTTTACAAGACACTTTAGGTTGTAA CAGTGCATTAAAATACCTAAACAGTATACCAGCATCCT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01109.hp1 others(24): Show HG00642.hp1 HG01074.hp1 HG01109.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG02602.hp1 HG02735.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG04204.hp1 NA18747.hp1 NA18943.hp1 NA18961.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA19007.hp1 NA19012.hp1 NA20805.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0014 a0016 a0022 a0027 a0032 a0033	a0001c0001 a0001c0002 a0001c0021 others(16): Show a0001c0001 a0001c0002 a0001c0021 a0002c0005 a0002c0009 a0002c0016 a0002c0058 a0003c0010 a0004c0004 a0005c0007 a0005c0043 a0006c0006 a0014c0050 a0016c0041 a0016c0055 a0022c0057 a0027c0044 a0032c0045 a0033c0049	a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 others(20): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0004 a0001c0021t0001 a0002c0005t0001 a0002c0009t0001 a0002c0016t0001 a0002c0016t0005 a0002c0058t0003 a0003c0010t0001 a0003c0010t0007 a0004c0004t0001 a0005c0007t0001 a0005c0043t0014 a0006c0006t0001 a0006c0006t0003 a0014c0050t0009 a0016c0041t0001 a0016c0055t0001 a0022c0057t0015 a0027c0044t0003 a0032c0045t0001 a0033c0049t0001	a0001c0001t0001g0012 a0001c0001t0001g0071 a0001c0001t0006g0097 others(24): Show a0001c0001t0001g0012 a0001c0001t0001g0071 a0001c0001t0006g0097 a0001c0002t0004g0110 a0001c0021t0001g0032 a0002c0005t0001g0043 a0002c0009t0001g0077 a0002c0016t0001g0057 a0002c0016t0005g0042 a0002c0058t0003g0051 a0003c0010t0001g0055 a0003c0010t0001g0063 a0003c0010t0007g0010 a0004c0004t0001g0038 a0004c0004t0001g0080 a0004c0004t0001g0081 a0005c0007t0001g0073 a0005c0043t0014g0118 a0006c0006t0001g0106 a0006c0006t0003g0026 a0014c0050t0009g0123 a0016c0041t0001g0109 a0016c0055t0001g0041 a0022c0057t0015g0115 a0027c0044t0003g0122 a0032c0045t0001g0078 a0033c0049t0001g0119	27	126	0.2143	-87	c.821 others(108): Show c.8218-20787_8218-20701delAGGATGCTGGTATACTGTTTAGGT ATTTTAATGCACTGTTACAACCTAAAGTGTCTTGTAAAGTATGTTCTTTA GAAATAAAATAAA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	55/78			chrX	TogoVar
DOCK3_chr3_50669927_51389198	51015814	ATGATATA others(80): Show ATGATATATATATCATATATTTCTATATATGATATATATCATATATATGA TATATATATCATATATTTCTATATATGATATATATCAT	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	208	0.0048	-87	c.316 others(106): Show c.316-48633_316-48547delTGATATATATATCATATATTTCTATA TATGATATATATCATATATATGATATATATATCATATATTTCTATATATG ATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOK7_chr4_3458306_3499482	3483163	GGGGACGG others(80): Show GGGGACGGCAGCCTCCTGAGTGGAGATGTAGGGGTGTGGAGGGTGGGGAC GGCAGCCTCCTGAGTGGAGATGTAGGGGTGTGGAGGGT	G G	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	402	0.0025	-87	c.533 others(104): Show c.533-2372_533-2286delACGGCAGCCTCCTGAGTGGAGATGTAGG GGTGTGGAGGGTGGGGACGGCAGCCTCCTGAGTGGAGATGTAGGGGTGTG GAGGGTGGG	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DUXA_chr19_57149021_57172485	57172024	CCGCGAGG others(80): Show CCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGGCGTGCGAGGGGGCGGG GGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0227 a0001c0001t0002g0205 a0001c0001t0001g0227 a0001c0001t0002g0205	2	425	0.0047	-87	c.-46 others(98): Show c.-4668_-4582delCGCCCCGCCCCCTCGCGCGCCCCGCCCCCTCGCG CGCCCCCGCCCCCTCGCACGCCCCCGCCCCCTCGCACGCCCCGCCCCCTC GCG	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4540		chr19	TogoVar
EHMT1_chr9_137614005_137841127	137780475	GCTGAGAC others(80): Show GCTGAGACGTGTGGTGATGACGCTGAGACGTGTGGTGATGACGCTGGGAT GTGTGGTGATGACGCTGAGATGTGTGGTGATGGCATCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0150 a0001c0008t0001g0150	1	168	0.0060	-87	c.227 others(104): Show c.2275+765_2275+851delCGTGTGGTGATGACGCTGAGACGTGTGG TGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGATGGCA TCACTGAGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar

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