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
ATAD2_chr8_123314850_123401447	123315547	AGGCCAGC others(46): Show AGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGTGGGGGGGTCAGCCCCCC GCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 NA18959.hp1 NA20300.hp1 HG01346.hp1 NA18959.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0044 a0001c0001t0001g0211 a0001c0001t0001g0218	3	276	0.0109	-53	c.55 others(64): Show c.5534_*5586delGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTC CCGGACGGGGCGGCTGGCC	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		4302		chr8	TogoVar
ATG4B_chr2_241632693_241678857	241662740	TGGGCCGG others(46): Show TGGGCCGGGCATGGTGGCTCACGCCTATAATCCCAACTTCAAAATCAATA AAGC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18975.hp1 NA19056.hp2 others(1): Show NA18957.hp2 NA18975.hp1 NA19056.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0144 a0001c0002t0002g0149 a0001c0002t0002g0027 a0001c0002t0002g0144 a0001c0002t0002g0149	4	408	0.0098	-53	c.538 others(70): Show c.538+3563_538+3615delATGGTGGCTCACGCCTATAATCCCAACT TCAAAATCAATAAAGCGGGCCGGGC	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG4B_chr2_241632693_241678857	241662751	TGGTGGCT others(46): Show TGGTGGCTCACGCCTATAATCCCAACTTCAAAATCAATAAAGCGGGCCGG GCGC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	408	0.0025	-53	c.538 others(70): Show c.538+3597_538+3649delTCAATAAAGCGGGCCGGGCGCGGTGGCT CACGCCTATAATCCCAACTTCAAAA	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG4B_chr2_241632693_241678857	241662857	CGGTGGCT others(46): Show CGGTGGCTCACGCCTATAATCCCAACTTCAAAATCAATAAAGCGGGCCGG GCAT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	408	0.0025	-53	c.538 others(70): Show c.538+3703_539-3703delTCAATAAAGCGGGCCGGGCATGGTGGCT CACGCCTATAATCCCAACTTCAAAA	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG9B_chr7_151010151_151029494	151027375	TCTCCCCA others(46): Show TCTCCCCATGTGATGAAATATGGCCTCGTGGGAAGGGAAAGACCTGACCG TCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(164): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0004 others(17): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0024 a0026 a0031	a0001c0001 a0001c0002 a0001c0007 others(23): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0012 a0002c0013 a0002c0019 a0004c0006 a0005c0005 a0006c0008 a0006c0025 a0007c0014 a0008c0009 a0011c0015 a0013c0018 a0014c0021 a0015c0023 a0016c0040 a0017c0044 a0018c0033 a0020c0030 a0021c0026 a0022c0022 a0024c0039 a0026c0034 a0031c0024	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 others(24): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0007t0001 a0002c0003t0001 a0002c0012t0003 a0002c0013t0005 a0002c0019t0001 a0004c0006t0001 a0005c0005t0001 a0006c0008t0001 a0006c0025t0002 a0007c0014t0001 a0008c0009t0002 a0011c0015t0001 a0013c0018t0001 a0014c0021t0001 a0015c0023t0001 a0016c0040t0001 a0017c0044t0001 a0018c0033t0007 a0020c0030t0001 a0021c0026t0001 a0022c0022t0001 a0024c0039t0001 a0026c0034t0001 a0031c0024t0010	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0024 a0001c0002t0001g0065 a0001c0002t0001g0108 a0001c0002t0001g0122 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0140 a0001c0002t0001g0143 a0001c0002t0001g0159 a0001c0002t0001g0171 a0001c0002t0009g0131 a0001c0007t0001g0021 a0002c0003t0001g0005 a0002c0003t0001g0008 a0002c0003t0001g0047 a0002c0003t0001g0111 a0002c0003t0001g0139 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0164 a0002c0012t0003g0031 a0002c0013t0005g0109 a0002c0013t0005g0110 a0002c0019t0001g0066 a0002c0019t0001g0067 a0004c0006t0001g0023 a0004c0006t0001g0028 a0004c0006t0001g0124 a0005c0005t0001g0006 a0005c0005t0001g0059 a0006c0008t0001g0022 a0006c0025t0002g0062 a0007c0014t0001g0056 a0008c0009t0002g0104 a0008c0009t0002g0118 a0011c0015t0001g0034 a0013c0018t0001g0043 a0014c0021t0001g0054 a0015c0023t0001g0060 a0016c0040t0001g0134 a0017c0044t0001g0174 a0018c0033t0007g0163 a0020c0030t0001g0125 a0021c0026t0001g0064 a0022c0022t0001g0057 a0024c0039t0001g0129 a0026c0034t0001g0103 a0031c0024t0010g0176	167	463	0.3607	-53	c.-30 others(64): Show c.-3005_-2953delGGGACGGTCAGGTCTTTCCCTTCCCACGAGGCCA TATTTCATCACATGGGGAG	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding		2882		chr7	TogoVar
ATP10A_chr15_25673712_25868327	25770140	AAACACGA others(46): Show AAACACGACCCGGGCGAGGTGGGGAGGGGCCCCACCCATGTTTTCAGCCA TCAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0031 a0001c0019t0001g0031	1	298	0.0034	-53	c.654 others(72): Show c.654+10826_654+10878delGTGATGGCTGAAAACATGGGTGGGGC CCCTCCCCACCTCGCCCGGGTCGTGTT	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112864181	AGCACGTG others(46): Show AGCACGTGCAGCTTCCCAGCGGGGTCCATCACCACATGGGCAGTAATTCA GTGC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	242	0.0041	-53	c.299 others(72): Show c.2991+1608_2991+1660delCACGTGCAGCTTCCCAGCGGGGTCCA TCACCACATGGGCAGTAATTCAGTGCG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP2B2_chr3_10319023_10510586	10458389	GGGAATCA others(46): Show GGGAATCAGATCCACTCAGTTTTGATCTTGGTGTGATGACTATGATGAAC AGCA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp1 HG03654.hp1 others(6): Show HG03239.hp1 HG03490.hp1 HG03654.hp1 NA18944.hp1 NA18947.hp2 NA18972.hp1 NA18992.hp2 NA19062.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0015 a0001c0003t0001 a0001c0003t0003 a0001c0005t0026 a0001c0005t0045 a0001c0007t0001	a0001c0001t0001g0145 a0001c0001t0015g0106 a0001c0003t0001g0255 others(6): Show a0001c0001t0001g0145 a0001c0001t0015g0106 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0003g0076 a0001c0005t0026g0270 a0001c0005t0045g0079 a0001c0007t0001g0150 a0001c0007t0001g0172	9	288	0.0313	-53	c.-31 others(72): Show c.-319-8580_-319-8528delTGCTGTTCATCATAGTCATCACACCA AGATCAAAACTGAGTGGATCTGATTCC	ATP2B2	ENSG00000157087.20	transcript	ENST00000360273.7	protein_coding	1/22			chr3	TogoVar
ATP6V1C2_chr2_10716630_10790110	10782060	AATTCTAG others(46): Show AATTCTAGAGCTTTTTCTATCCAGAGATCACCGCTGACCCTAGGCATTTT GCTC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01192.hp1 others(1): Show HG01069.hp2 HG01071.hp2 HG01192.hp1 NA19005.hp2	a0002 a0007 a0002 a0007	a0002c0007 a0007c0014 a0002c0007 a0007c0014	a0002c0007t0009 a0007c0014t0021 a0002c0007t0009 a0007c0014t0021	a0002c0007t0009g0040 a0002c0007t0009g0041 a0002c0007t0009g0151 others(1): Show a0002c0007t0009g0040 a0002c0007t0009g0041 a0002c0007t0009g0151 a0007c0014t0021g0179	4	352	0.0114	-53	c.106 others(70): Show c.1062-182_1062-130delATTCTAGAGCTTTTTCTATCCAGAGATC ACCGCTGACCCTAGGCATTTTGCTC	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	12/13			chr2	TogoVar
ATP8A1_chr4_42403373_42662105	42555086	TATCTATC others(46): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTA TCTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02293.hp2 others(1): Show HG02257.hp2 HG02280.hp2 HG02293.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0032 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0032 a0001c0002t0004	a0001c0001t0008g0093 a0001c0001t0009g0223 a0001c0001t0032g0279 others(1): Show a0001c0001t0008g0093 a0001c0001t0009g0223 a0001c0001t0032g0279 a0001c0002t0004g0029	4	308	0.0130	-53	c.141 others(70): Show c.1413+829_1413+881delTAGATAGATAGATAGATAGATAGATAGA TAGATAGATAGATAGATAGATAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
AVL9_chr7_32490489_32593726	32579471	ATTATATT others(46): Show ATTATATTATATATAATATATTACATATTATATATTATATATTATATTAT ATAT	A A	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	151	0.0066	-53	c.168 others(70): Show c.1689-746_1689-694delTATATTATATATAATATATTACATATTA TATATTATATATTATATTATATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579535	ATTATATA others(46): Show ATTATATATTATATATTATATATTATATTATATATTATATTATATATTAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp1 HG02451.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0239 a0001c0001t0041g0241 a0001c0001t0041g0239 a0001c0001t0041g0241	2	323	0.0062	-53	c.168 others(70): Show c.1689-682_1689-630delTATATATTATATATTATATATTATATTA TATATTATATTATATATTATATATT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678881	GTGTGTGT others(46): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	2	444	0.0045	-53	c.287 others(68): Show c.287+685_287+737delACACACACACACACACACACACACACACAC ACACACACACACACACACACACA	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
B3GALT5_chr21_39607940_39678137	39672881	TGGGGTGG others(46): Show TGGGGTGGGGCAGTGTCCATTGAGGTGTCCTGTCGGGAATGACAAGTCCA GGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0093 a0002c0002t0093	a0002c0002t0093g0040 a0002c0002t0093g0040	1	334	0.0030	-53	c.11 others(66): Show c.11390_*11442delGGGGTGGGGCAGTGTCCATTGAGGTGTCCTGT CGGGAATGACAAGTCCAGGGC	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	4/4	11390		chr21	TogoVar
B3GNTL1_chr17_82937149_83056770	82962522	CCCGCGGG others(46): Show CCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGGA GGTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG03225.hp2 HG02451.hp1 HG02886.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0015 a0001c0011t0010 a0001c0003t0015 a0001c0011t0010	a0001c0003t0015g0194 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0003t0015g0194 a0001c0011t0010g0147 a0001c0011t0010g0148	3	266	0.0113	-53	c.556 others(70): Show c.556-1394_556-1342delAACCTCCACCCTAAATCACCCGTGTGAG GGTCCGTGTCCACCAGCACCCGCGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83032176	CGGGAGCT others(46): Show CGGGAGCTGAACAACGGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGA GCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA20129.hp1 HG01243.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0177 a0001c0001t0017g0176 a0001c0001t0002g0177 a0001c0001t0017g0176	2	266	0.0075	-53	c.297 others(70): Show c.297+2806_297+2858delAAGCTCGGTCTGGGTCGGAGGCCTGGCC TGGTCTGACCCGTTGTTCAGCTCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
BANK1_chr4_101785730_102079812	101791199	GTGTCTGC others(46): Show GTGTCTGCAACTTCTGAGGAGCTGGAACTTTCCCCAGCACCCGGGTCAGG GTCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp1 HG02056.hp1 others(10): Show HG00544.hp1 HG00738.hp1 HG02056.hp1 HG02071.hp1 HG02523.hp2 HG03831.hp2 HG04115.hp2 NA18948.hp2 NA18966.hp1 NA18978.hp1 NA19056.hp2 NA19086.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0002 a0002c0003 a0003c0004 others(3): Show a0001c0002 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0007c0008	a0001c0002t0003 a0002c0003t0002 a0003c0004t0001 others(4): Show a0001c0002t0003 a0002c0003t0002 a0003c0004t0001 a0004c0005t0001 a0005c0006t0001 a0005c0006t0003 a0007c0008t0002	a0001c0002t0003g0015 a0002c0003t0002g0008 a0003c0004t0001g0006 others(10): Show a0001c0002t0003g0015 a0002c0003t0002g0008 a0003c0004t0001g0006 a0003c0004t0001g0011 a0003c0004t0001g0013 a0003c0004t0001g0016 a0003c0004t0001g0280 a0004c0005t0001g0012 a0005c0006t0001g0007 a0005c0006t0003g0005 a0007c0008t0002g0009 a0007c0008t0002g0010 a0007c0008t0002g0014	13	282	0.0461	-53	c.70+ others(66): Show c.70+253_70+305delCTGCAACTTCTGAGGAGCTGGAACTTTCCCCA GCACCCGGGTCAGGGTCCTGT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	87987685	CACTCCAG others(46): Show CACTCCAGGCTGAGCGAGACCCTAACTCAAAAAAAAAAAAAAAAAAAAAA AAAA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	350	0.0057	-53	c.362 others(70): Show c.362+3428_362+3480delCTCCAGGCTGAGCGAGACCCTAACTCAA AAAAAAAAAAAAAAAAAAAAAAAAA	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BAZ2B_chr2_159313979_159621548	159325032	TTATATAT others(46): Show TTATATATATATTATATATATATATATATTATATATATATATATATTATA TATA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02965.hp2 HG02717.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0001 a0002c0007t0002 a0002c0002t0001 a0002c0007t0002	a0002c0002t0001g0128 a0002c0007t0002g0135 a0002c0002t0001g0128 a0002c0007t0002g0135	2	150	0.0133	-53	c.621 others(69): Show c.6210-131_6210-79delTATATATAATATATATATATATATAATAT ATATATATATATAATATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159325041	TATTATAT others(46): Show TATTATATATATATATATATTATATATATATATATATTATATATATATAT ATTA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02896.hp2 HG01168.hp2 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0001 a0002c0002t0002 a0001c0008t0001 a0002c0002t0002	a0001c0008t0001g0035 a0002c0002t0002g0139 a0001c0008t0001g0035 a0002c0002t0002g0139	2	123	0.0163	-53	c.621 others(69): Show c.6210-140_6210-88delTAATATATATATATATAATATATATATAT ATATAATATATATATATATATAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507213	AGGAAGGA others(46): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGGAGGGGAGG GGAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03654.hp1 HG03710.hp2 others(4): Show HG00597.hp2 HG03654.hp1 HG03710.hp2 HG04184.hp1 HG04228.hp1 NA18974.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 a0001c0002t0001 a0001c0003t0009	a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0004g0071 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0001t0004g0071 a0001c0001t0004g0081 a0001c0001t0030g0027 a0001c0002t0001g0049 a0001c0003t0009g0198	7	207	0.0338	-53	c.386 others(72): Show c.386-38433_386-38381delCTCCCCTCCCCTCCCCTCCCCTCCCT CCCTCCCTTCCTTCCTTCCTTCCTTCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL9_chr1_147536501_147631216	147541070	TGAGAGAG others(46): Show TGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAG GAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(30): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp1 HG01109.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02523.hp2 HG02970.hp2 HG03139.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18982.hp2 NA18986.hp1 NA18989.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0022 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0112 a0001c0001t0002g0179 a0001c0001t0003g0009 others(28): Show a0001c0001t0001g0112 a0001c0001t0002g0179 a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0035 a0001c0001t0003g0164 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0184 a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0063 a0001c0001t0004g0101 a0001c0001t0004g0145 a0001c0001t0005g0151 a0001c0001t0006g0222 a0001c0001t0007g0127 a0001c0001t0008g0008 a0001c0001t0008g0211 a0001c0001t0008g0213 a0001c0001t0010g0016 a0001c0001t0012g0174 a0001c0001t0022g0212 a0002c0002t0001g0007 a0002c0002t0001g0091 a0002c0002t0001g0094 a0002c0002t0001g0106 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0003t0001g0011	33	184	0.1793	-53	c.-10 others(64): Show c.-1081_-1029delGAGAGAGAGAGAGAAGAGAGAGAGAGAGAAGAGA GAGAGAGAGAGAGAGGAGA	BCL9	ENSG00000116128.12	transcript	ENST00000234739.8	protein_coding		430		chr1	TogoVar
BDH1_chr3_197504783_197560968	197510631	TGTGTGTG others(46): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACATGTGTG TAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03942.hp2 HG03098.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0070 a0001c0001t0008 a0001c0001t0070	a0001c0001t0008g0199 a0001c0001t0070g0269 a0001c0001t0008g0199 a0001c0001t0070g0269	2	318	0.0063	-53	c.12 others(64): Show c.1211_*1263delCTTACACACATGTACACACACACACACACACACA CACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDH1_chr3_197504783_197560968	197517232	TCCCCCCT others(46): Show TCCCCCCTCAGGCCGACCCCCGCATCAGTCATTTCCTGCTCTATGGTCTC CATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01361.hp2 HG01891.hp1 others(1): Show HG00140.hp1 HG01361.hp2 HG01891.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0044 a0001c0001t0001 a0001c0001t0038 a0001c0001t0044	a0001c0001t0001g0110 a0001c0001t0001g0233 a0001c0001t0038g0088 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0233 a0001c0001t0038g0088 a0001c0001t0044g0090	4	314	0.0127	-53	c.410 others(70): Show c.410-2869_410-2817delGATGGAGACCATAGAGCAGGAAATGACT GATGCGGGGGTCGGCCTGAGGGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BID_chr22_17729138_17779469	17756432	CTTCTTTC others(46): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT TTCT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01496.hp1 HG01981.hp1 others(4): Show HG00733.hp2 HG01496.hp1 HG01981.hp1 HG02451.hp2 HG02683.hp1 HG03491.hp2 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0001c0001t0001 a0002c0002t0002 a0002c0002t0005	a0001c0001t0001g0054 a0001c0001t0001g0121 a0002c0002t0002g0258 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0121 a0002c0002t0002g0258 a0002c0002t0002g0267 a0002c0002t0002g0292 a0002c0002t0005g0240 a0002c0002t0005g0241	7	306	0.0229	-53	c.-58 others(70): Show c.-58-6311_-58-6259delAGAAAGAAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BPHL_chr6_3113711_3158578	3145598	CGGAGTGC others(46): Show CGGAGTGCTGGTTTGGGTCGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCG GGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG03041.hp1 others(1): Show HG01884.hp1 HG02886.hp1 HG03041.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0222 a0001c0001t0002g0223 others(1): Show a0001c0001t0002g0046 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224	4	315	0.0127	-53	c.788 others(70): Show c.788+5109_788+5161delAGTGCTGGTTCGGGTTGGAGTGCTGGTT CGGGGTGGAGTGCTGGTTTGGGTCG	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRD3_chr9_134025305_134073026	134029764	AGGGAGGG others(46): Show AGGGAGGGGACAAGCGGCCAGGTTGACTAGAAGAGCACAGAACCTGGCTG TCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0154 a0001c0002t0025g0154	1	332	0.0030	-53	c.37 others(64): Show c.3773_*3825delGAGACAGCCAGGTTCTGTGCTCTTCTAGTCAACC TGGCCGCTTGTCCCCTCCC	BRD3	ENSG00000169925.17	transcript	ENST00000303407.12	protein_coding		540		chr9	TogoVar
BRF1_chr14_105204286_105306001	105275925	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03834.hp2 HG00323.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	68	0.0294	-53	c.266 others(70): Show c.266-3084_266-3032delCCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276031	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0025	1	65	0.0154	-53	c.266 others(70): Show c.266-3190_266-3138delCCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276190	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	56	0.0179	-53	c.266 others(70): Show c.266-3349_266-3297delCCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276342	CGAGAGGC others(46): Show CGAGAGGCGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	65	0.0154	-53	c.266 others(70): Show c.266-3501_266-3449delAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCTCTAGTGAGGGCCGCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276349	CGGCCCTC others(46): Show CGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0025	1	53	0.0189	-53	c.266 others(70): Show c.266-3508_266-3456delCCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276508	GGGCCCTC others(46): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	63	0.0159	-53	c.266 others(70): Show c.266-3667_266-3615delGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276892	AGAGCTGG others(46): Show AGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAGAGGGGGCCCTCAC TAGG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01928.hp2 HG02717.hp2 HG00673.hp1 HG01928.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0042	3	70	0.0429	-53	c.266 others(70): Show c.266-4051_266-3999delCCTAGTGAGGGCCCCCTCTCGGCTCCTT CTCACTGTGGCCTCCTCCCCAGCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276925	CGAGAGGG others(46): Show CGAGAGGGGGCCCTCACTAGGGAGCTGGGGAGGAGGCCACAGTGAGAAGG AGCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	66	0.0152	-53	c.266 others(70): Show c.266-4084_266-4032delAGCTCCTTCTCACTGTGGCCTCCTCCCC AGCTCCCTAGTGAGGGCCCCCTCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105276985	GGGCCCTC others(46): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCCGAG AGGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03579.hp1 NA18906.hp2 HG02630.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0028 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0002g0028	3	54	0.0556	-53	c.266 others(70): Show c.266-4144_266-4092delGCCTCTCGGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277157	GGAGCTGG others(46): Show GGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAGAGGGGGCCCTCAC TAGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00741.hp1 HG01175.hp1 others(7): Show HG00673.hp1 HG00741.hp1 HG01175.hp1 HG01361.hp2 HG01891.hp2 HG01928.hp2 HG02129.hp1 HG02257.hp2 HG02717.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0002g0014 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010	10	45	0.2222	-53	c.266 others(70): Show c.266-4316_266-4264delTCTAGTGAGGGCCCCCTCTCAGCTCCTT CTCACTGTGGCCTCCTCCCCAGCTC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105277462	GGGCCCTC others(46): Show GGGCCCTCACTAGAGAGCTGGGGAGGAGGCCACAGTGAGAAGGAGCTGAG AGGC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG02257.hp2 others(1): Show HG00741.hp1 HG01361.hp2 HG02257.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0004g0008 a0001c0001t0004g0009 others(1): Show a0001c0001t0001g0029 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0010	4	63	0.0635	-53	c.266 others(70): Show c.266-4621_266-4569delGCCTCTCAGCTCCTTCTCACTGTGGCCT CCTCCCCAGCTCTCTAGTGAGGGCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	2/17			chr14	TogoVar
BRMS1L_chr14_35821338_35876963	35821554	CATAATAA others(46): Show CATAATAATAATATAATAATAATAATCATTATTACCCTTTTAACTGCCTT GATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	372	0.0027	-53	c.-49 others(64): Show c.-4962_-4910delATAATAATAATATAATAATAATAATCATTATTAC CCTTTTAACTGCCTTGATT	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		4783		chr14	TogoVar
BRSK2_chr11_1384934_1467689	1394709	TCCCTGGA others(46): Show TCCCTGGAGATGGGCCATGGAGATGGGTCCTGGAGATGGGTCCTGGAGAT GGGC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0197 a0002c0002t0005g0197	1	358	0.0028	-53	c.91+ others(68): Show c.91+4389_91+4441delCCTGGAGATGGGCCATGGAGATGGGTCCTG GAGATGGGTCCTGGAGATGGGCC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRWD1_chr21_39180482_39318632	39217035	AAATATAT others(46): Show AAATATATATATATATTTATATATATATATATATATATATATATATATAT TTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0056 a0004c0003t0056	a0004c0003t0056g0159 a0004c0003t0056g0159	1	325	0.0031	-53	c.365 others(72): Show c.3659+1064_3659+1116delAAAAATATATATATATATATATATAT ATATATATATAAATATATATATATATT	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217041	ATATATAT others(46): Show ATATATATATTTATATATATATATATATATATATATATATATATTTTTTT TTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG01070.hp2 others(27): Show HG00280.hp2 HG00642.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01891.hp2 HG01952.hp1 HG02132.hp2 HG02257.hp2 HG02717.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp1 NA18945.hp1 NA18962.hp2 NA18981.hp2 NA18994.hp1 NA20129.hp1 NA20905.hp2	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0005 a0003c0004t0010 a0003c0004t0014 others(3): Show a0003c0004t0005 a0003c0004t0010 a0003c0004t0014 a0003c0004t0030 a0003c0004t0032 a0003c0005t0007	a0003c0004t0005g0096 a0003c0004t0005g0098 a0003c0004t0005g0099 others(27): Show a0003c0004t0005g0096 a0003c0004t0005g0098 a0003c0004t0005g0099 a0003c0004t0005g0119 a0003c0004t0005g0124 a0003c0004t0005g0125 a0003c0004t0005g0126 a0003c0004t0005g0127 a0003c0004t0005g0128 a0003c0004t0005g0129 a0003c0004t0005g0130 a0003c0004t0005g0132 a0003c0004t0005g0133 a0003c0004t0005g0135 a0003c0004t0005g0137 a0003c0004t0010g0087 a0003c0004t0010g0088 a0003c0004t0010g0089 a0003c0004t0010g0090 a0003c0004t0010g0092 a0003c0004t0010g0094 a0003c0004t0010g0095 a0003c0004t0014g0328 a0003c0004t0014g0329 a0003c0004t0014g0330 a0003c0004t0014g0331 a0003c0004t0030g0136 a0003c0004t0032g0100 a0003c0005t0007g0112 a0003c0005t0007g0117	30	333	0.0901	-53	c.365 others(72): Show c.3659+1058_3659+1110delAAAAAAAAAAATATATATATATATAT ATATATATATATATATAAATATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
BRWD1_chr21_39180482_39318632	39217043	ATATATAT others(46): Show ATATATATTTATATATATATATATATATATATATATATATATTTTTTTTT TTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG01891.hp1 others(21): Show HG01175.hp1 HG01433.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 NA18522.hp1 NA18946.hp2 NA18960.hp1 NA18970.hp2 NA19030.hp1 NA19054.hp2 NA19063.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0005 a0003c0005t0007 a0003c0005t0031 others(3): Show a0003c0004t0005 a0003c0005t0007 a0003c0005t0031 a0003c0005t0033 a0003c0005t0043 a0003c0005t0044	a0003c0004t0005g0091 a0003c0004t0005g0120 a0003c0004t0005g0121 others(21): Show a0003c0004t0005g0091 a0003c0004t0005g0120 a0003c0004t0005g0121 a0003c0004t0005g0122 a0003c0004t0005g0123 a0003c0004t0005g0134 a0003c0005t0007g0101 a0003c0005t0007g0102 a0003c0005t0007g0103 a0003c0005t0007g0104 a0003c0005t0007g0105 a0003c0005t0007g0106 a0003c0005t0007g0107 a0003c0005t0007g0108 a0003c0005t0007g0109 a0003c0005t0007g0110 a0003c0005t0007g0111 a0003c0005t0007g0113 a0003c0005t0007g0114 a0003c0005t0007g0118 a0003c0005t0031g0115 a0003c0005t0033g0116 a0003c0005t0043g0184 a0003c0005t0044g0185	24	334	0.0719	-53	c.365 others(72): Show c.3659+1056_3659+1108delAAAAAAAAAAAAATATATATATATAT ATATATATATATATATATAAATATATA	BRWD1	ENSG00000185658.14	transcript	ENST00000342449.8	protein_coding	31/40			chr21	TogoVar
C10orf90_chr10_126419997_126675693	126672466	GACTGGTC others(46): Show GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0001 a0013c0026t0001	a0013c0026t0001g0181 a0013c0026t0001g0181	1	216	0.0046	-53	c.-20 others(64): Show c.-2039_-1987delGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTC GGGGTAGCTGATGACCAGT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1774		chr10	TogoVar
C13orf46_chr13_113948705_113979076	113963320	GTCCCTGT others(46): Show GTCCCTGTCCTCAGCCCTCGCCCCGTCCTCAGCCTCGGCCCGTCCTCAGC CTCT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02647.hp2 others(5): Show HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0021 a0001c0001t0031	a0001c0001t0002g0025 a0001c0001t0010g0232 a0001c0001t0021g0056 others(2): Show a0001c0001t0002g0025 a0001c0001t0010g0232 a0001c0001t0021g0056 a0001c0001t0021g0220 a0001c0001t0031g0221	8	295	0.0271	-53	c.572 others(70): Show c.572+1554_572+1606delAGAGGCTGAGGACGGGCCGAGGCTGAGG ACGGGGCGAGGGCTGAGGACAGGGA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C3_chr19_6672704_6725650	6700463	TATATATG others(46): Show TATATATGTAATATATAATATATGTAATATGATATATTATATATGTAATA TATA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG06807.hp1 HG02630.hp2 HG06807.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0067 a0001c0010t0001g0339 a0001c0010t0001g0067 a0001c0010t0001g0339	2	348	0.0057	-53	c.244 others(72): Show c.2440+1611_2440+1663delTATATATTACATATATAATATATCAT ATTACATATATTATATATTACATATAT	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1116157	CGGCTTCC others(46): Show CGGCTTCCATCACCAACGCCCACGCAGGATGACATCACTACAGCTCTAGG GACT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp2 NA18986.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0199 a0001c0001t0027g0193 a0001c0001t0004g0199 a0001c0001t0027g0193	2	324	0.0062	-53	c.129 others(72): Show c.129+11047_129+11099delAGTCCCTAGAGCTGTAGTGATGTCAT CCTGCGTGGGCGTTGGTGATGGAAGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1117348	TGATGACA others(46): Show TGATGACATCACTGCAGCTCTACGGACCGGCTTCCATCACCAACGCCCAC GCAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp2 HG03225.hp2 others(5): Show HG01243.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0002c0002t0003	a0001c0001t0002g0315 a0001c0001t0003g0290 a0001c0001t0003g0291 others(5): Show a0001c0001t0002g0315 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0007g0164 a0001c0001t0008g0165 a0001c0001t0012g0292 a0002c0002t0003g0313	8	324	0.0247	-53	c.129 others(70): Show c.129+9856_129+9908delCTGCGTGGGCGTTGGTGATGGAAGCCGG TCCGTAGAGCTGCAGTGATGTCATC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CA12_chr15_63316378_63386846	63320703	CGACCAGA others(46): Show CGACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAAACT CTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01884.hp2 HG02083.hp2 others(23): Show HG01168.hp1 HG01884.hp2 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02486.hp2 HG02602.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03195.hp2 HG03704.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 others(7): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0003t0024	a0001c0001t0006g0184 a0001c0001t0006g0294 a0001c0001t0006g0312 others(21): Show a0001c0001t0006g0184 a0001c0001t0006g0294 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0319 a0001c0001t0006g0335 a0001c0001t0006g0337 a0001c0001t0006g0338 a0001c0001t0010g0007 a0001c0001t0010g0139 a0001c0001t0010g0153 a0001c0001t0010g0204 a0001c0001t0017g0129 a0001c0001t0017g0130 a0001c0001t0017g0203 a0001c0001t0017g0339 a0001c0001t0023g0003 a0001c0001t0038g0166 a0001c0001t0039g0167 a0001c0001t0040g0019 a0001c0001t0041g0098 a0001c0001t0043g0329 a0001c0003t0024g0136 a0001c0003t0024g0138	26	299	0.0870	-53	c.55 others(64): Show c.5529_*5581delTTAGAGTTTACCGTGCTTATCCCAATCACGTGGC ATGGAAACACCTTCTGGTC	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding		674		chr15	TogoVar
CA12_chr15_63316378_63386846	63321022	AACCAGAA others(46): Show AACCAGAAGGTGTTTCCATGCCACGTGATTGGGATAAGCACGGTAAACTC TAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0168 a0001c0001t0008g0168	1	304	0.0033	-53	c.52 others(64): Show c.5210_*5262delCTTAGAGTTTACCGTGCTTATCCCAATCACGTGG CATGGAAACACCTTCTGGT	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding		355		chr15	TogoVar

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