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
ANKRD11_chr16_89262630_89495561	89429270	ACGCTCAG others(77): Show ACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	310	0.0032	-84	c.-14 others(105): Show c.-144-10986_-144-10903delCGAGAGTTGAGAGTCCCTGCTGTG TACTAGAACGTCTGAGCGCGAGAGTTGAGAGTACCTGCTGTGTACTAGAA CGTCTGAGCG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429740	TCGTTCTA others(77): Show TCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTA GTACACAGCAGGTACTCTCAACTCTCGCGCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 NA18943.hp1 HG00099.hp1 HG00741.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0236 a0001c0001t0001g0237 a0002c0002t0002g0244 a0001c0001t0001g0236 a0001c0001t0001g0237 a0002c0002t0002g0244	3	310	0.0097	-84	c.-14 others(105): Show c.-144-11456_-144-11373delTCTGAGCGCGAGAGTTGAGAGTAC CTGCTGTGTACTAGAACGACTGAGCGTGAGAGTTGAGAGTCCCTGCTGTG TACTAGAACG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89430089	CAGCAGGG others(77): Show CAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGG ACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00741.hp2 HG00099.hp1 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0236 a0001c0001t0001g0237	2	310	0.0065	-84	c.-14 others(105): Show c.-144-11805_-144-11722delATGTACTAGAACGACTGAGCGCGA GAGTTGAGAGTCCCTGCTGTGTACTAGAACGTCTGAGCGTGAGAGTTGAG AGTCCCTGCT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANTXR1_chr2_69008179_69254327	69096286	AAGGGAGG others(77): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02572.hp2 NA20129.hp2 HG01981.hp2 HG02572.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0005g0058 a0001c0001t0009g0115 a0001c0001t0001g0023 a0001c0001t0005g0058 a0001c0001t0009g0115	3	206	0.0146	-84	c.703 others(101): Show c.703+5371_703+5454delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAA GGGAGG	ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARFGEF3_chr6_138156939_138349663	138246223	AGACTTTC others(77): Show AGACTTTCAACATGGGGCGAAAAGTCTCCACCAGCTACATATGCCATGAA TTGCAAAATTCTACAACACATTACAATTCTGAAGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0048 a0002c0003t0048	a0002c0003t0048g0158 a0002c0003t0048g0158	1	190	0.0053	-84	c.665 others(99): Show c.665+634_665+717delACTTTCAACATGGGGCGAAAAGTCTCCACC AGCTACATATGCCATGAATTGCAAAATTCTACAACACATTACAATTCTGA AGTG	ARFGEF3	ENSG00000112379.9	transcript	ENST00000251691.5	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
ARHGAP39_chr8_144524179_144690846	144600317	CGTGTGCA others(77): Show CGTGTGCACTTGTGTACCTGAGTGTGCATGTGCGTGGAGGCATGCGTGCA CACTTGGGTACCTACCTGCGTGTGTGGAGGCGTGT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	246	0.0041	-84	c.80+ others(99): Show c.80+5134_80+5217delACACGCCTCCACACACGCAGGTAGGTACCC AAGTGTGCACGCATGCCTCCACGCACATGCACACTCAGGTACACAAGTGC ACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ARHGEF10L_chr1_17534698_17702869	17683173	TGGTGCTC others(77): Show TGGTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTGCTC TCACCCGGGTGCTCACTGCCCCCTGCTCTCACCCG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	168	0.0060	-84	c.301 others(103): Show c.3010-4317_3010-4234delCGGGTGCTCACTGCCCCCTGCTCTCA CCGGGGTGCTCACTGCCCCCTGCTCTCACCCGGGTGCTCACTGCCCCCTG CTCTCACC	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF10L_chr1_17534698_17702869	17683256	CGGGTGCT others(77): Show CGGGTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTGCT CTCACCCGGGTGCTCACTGCCCCCTGCTCTCACCG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02280.hp2 HG02896.hp2 others(4): Show HG00642.hp1 HG02280.hp2 HG02896.hp2 HG02976.hp2 HG03225.hp1 HG03471.hp1 NA21309.hp2	a0002 a0005 a0024 a0002 a0005 a0024	a0002c0007 a0005c0024 a0024c0031 a0002c0007 a0005c0024 a0024c0031	a0002c0007t0002 a0005c0024t0002 a0024c0031t0002 a0002c0007t0002 a0005c0024t0002 a0024c0031t0002	a0002c0007t0002g0013 a0002c0007t0002g0058 a0002c0007t0002g0085 others(4): Show a0002c0007t0002g0013 a0002c0007t0002g0058 a0002c0007t0002g0085 a0002c0007t0002g0104 a0002c0007t0002g0111 a0005c0024t0002g0059 a0024c0031t0002g0109	7	168	0.0417	-84	c.301 others(103): Show c.3010-4261_3010-4178delCGGGTGCTCACTGCCCCCTGCTCTCA CCGGGGTGCTCACTGCCCCCTGCTCTCACCGGGGTGCTCACTGCCCCCTG CTCTCACC	ARHGEF10L	ENSG00000074964.17	transcript	ENST00000361221.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr1	TogoVar
ARHGEF10_chr8_1818926_1963641	1888248	TTGCGAGG others(77): Show TTGCGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGGGGTGGGGTG AGGGTTTGTGAGGATATGCTGAGTGGGATGTTGAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0024 a0024	a0024c0093 a0024c0093	a0024c0093t0003 a0024c0093t0003	a0024c0093t0003g0358 a0024c0093t0003g0358	1	363	0.0028	-84	c.118 others(103): Show c.1182+2544_1182+2627delCGAGGAGATGCTGAGTGGGGCTGTAG GTTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGAT GTTGACTG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888251	CGAGGAGA others(77): Show CGAGGAGATGCTGAGTGGGGCTGTAGGTTCTGAGGAGGGGTGGGGTGAGG GTTTGTGAGGATATGCTGAGTGGGATGTTGACTGT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02818.hp1 HG03579.hp1 HG01981.hp1 HG02818.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0131 a0001c0007 a0002c0131	a0001c0007t0003 a0002c0131t0001 a0001c0007t0003 a0002c0131t0001	a0001c0007t0003g0355 a0001c0007t0003g0360 a0002c0131t0001g0058 a0001c0007t0003g0355 a0001c0007t0003g0360 a0002c0131t0001g0058	3	363	0.0083	-84	c.118 others(103): Show c.1182+2552_1182+2635delTGCTGAGTGGGGCTGTAGGTTCTGAG GAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATGTTGACTG TGAGGAGA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362011	AAGAAGGA others(77): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	298	0.0034	-84	c.-11 others(101): Show c.-110-707_-110-624delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362089	GAGAAGGA others(77): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGGAGAAGAAGGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp2 HG02155.hp1 others(3): Show HG00621.hp2 HG00738.hp2 HG02155.hp1 HG02683.hp1 HG03492.hp2 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0018 a0001c0001 a0001c0002 a0001c0018	a0001c0001t0002 a0001c0002t0003 a0001c0018t0001 a0001c0001t0002 a0001c0002t0003 a0001c0018t0001	a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0117 others(3): Show a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0117 a0001c0002t0003g0079 a0001c0018t0001g0101 a0001c0018t0001g0118	6	298	0.0201	-84	c.-11 others(101): Show c.-110-689_-110-606delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGAG AAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221143	ATATATAG others(77): Show ATATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02970.hp2 others(3): Show HG01884.hp2 HG02055.hp2 HG02970.hp2 HG03139.hp2 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0009 a0001c0001t0007g0028 others(3): Show a0001c0001t0007g0004 a0001c0001t0007g0009 a0001c0001t0007g0028 a0001c0001t0007g0034 a0001c0001t0007g0067 a0001c0001t0007g0132	6	274	0.0219	-84	c.670 others(101): Show c.670+3354_670+3437delGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARSB_chr5_78772209_78990310	78797167	CGCGCCCG others(77): Show CGCGCCCGGCAGGTCTCGATCTCTTGACCTTGTGATCCGCCTGCCTTGGT CTCCGAAAGTGCCGGGATTACAGGCACGAGCCACT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0029 a0003c0004t0029	a0003c0004t0029g0109 a0003c0004t0029g0110 a0003c0004t0029g0109 a0003c0004t0029g0110	2	360	0.0056	-84	c.121 others(105): Show c.1214-15277_1214-15194delAGTGGCTCGTGCCTGTAATCCCGG CACTTTCGGAGACCAAGGCAGGCGGATCACAAGGTCAAGAGATCGAGACC TGCCGGGCGC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ASAP1_chr8_130047104_130448674	130049846	TGGGGGGC others(77): Show TGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCA GAGGGGAACACATGGAGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	308	0.0033	-84	c.48 others(95): Show c.4801_*4884delCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCT CTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2257		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050114	CATGGGGG others(77): Show CATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGGGGCAGAGGGGAATACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA19090.hp2 HG02165.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0142 a0002c0002t0001g0143	2	308	0.0065	-84	c.45 others(95): Show c.4533_*4616delATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1989		chr8	TogoVar
ASIC2_chr17_33008087_33298295	33269667	CTTCCTTC others(77): Show CTTCCTTCCCTCCCTCCCTCCTGCCTGCCTGCCTGCCTGCCTGCCTTTCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp2 HG02572.hp2 others(7): Show HG00738.hp1 HG01515.hp2 HG02572.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG04115.hp1 NA18960.hp2 NA18968.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0002c0003t0008	a0001c0001t0003g0076 a0001c0001t0004g0029 a0001c0001t0007g0224 others(7): Show a0001c0001t0003g0076 a0001c0001t0004g0029 a0001c0001t0007g0224 a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0002t0005g0101 a0001c0004t0001g0170 a0001c0004t0002g0152 a0001c0004t0002g0164 a0002c0003t0008g0183	10	240	0.0417	-84	c.708 others(103): Show c.708+21657_708+21740delAGAAGGAAGGAAGGAAGGAGGGAGGG AGGAAGGGAGGAAAGGCAGGCAGGCAGGCAGGCAGGCAGGAGGGAGGGAG GGAAGGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ATP10A_chr15_25673712_25868327	25757956	CCACCTGC others(77): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01361.hp1 HG01074.hp1 HG01361.hp1	a0010 a0023 a0010 a0023	a0010c0017 a0023c0057 a0010c0017 a0023c0057	a0010c0017t0001 a0023c0057t0001 a0010c0017t0001 a0023c0057t0001	a0010c0017t0001g0103 a0023c0057t0001g0016 a0010c0017t0001g0103 a0023c0057t0001g0016	2	300	0.0067	-84	c.655 others(103): Show c.655-21899_655-21816delATCGGAATGAGTTAGGGTGGAGCAGG TGATAGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25757984	TCACCTGC others(77): Show TCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	300	0.0033	-84	c.655 others(103): Show c.655-21927_655-21844delGTCGGAATGAGTTAGGGTGGAGCAGG TGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGG AGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758348	CCACCTGA others(77): Show CCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	300	0.0033	-84	c.655 others(103): Show c.655-22291_655-22208delATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGATTGGAATGAGTTAGGGTGG ATCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758430	GATCACCT others(77): Show GATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0001 a0017c0023t0001	a0017c0023t0001g0232 a0017c0023t0001g0232	1	300	0.0033	-84	c.655 others(103): Show c.655-22373_655-22290delAGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAG CAGGTGAT	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758697	CCTAACTC others(77): Show CCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0047 a0047	a0047c0050 a0047c0050	a0047c0050t0001 a0047c0050t0001	a0047c0050t0001g0175 a0047c0050t0001g0175	1	300	0.0033	-84	c.654 others(103): Show c.654+22238_654+22321delTTAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAA TGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP2B4_chr1_203621832_203749081	203624200	GAGAAAGA others(77): Show GAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG06807.hp2 HG01891.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0030 a0001c0002t0013g0032 a0001c0002t0013g0030 a0001c0002t0013g0032	2	318	0.0063	-84	c.-34 others(95): Show c.-3483_-3400delAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		2631		chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167875983	ACACGTAT others(77): Show ACACGTATATATATATATACGTATATATATATATACGTATATATATATAT ACGTATATATATATATATACGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG03225.hp2 others(1): Show HG01891.hp1 HG02717.hp1 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0051 a0001c0001t0005g0058 others(1): Show a0001c0001t0005g0012 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0005g0101	4	118	0.0339	-84	c.59 others(95): Show c.5964_*6047delCACGTATATATATATATACGTATATATATATATA CGTATATATATATATACGTATATATATATATATACGTATATATATATATG	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1939		chr2	TogoVar
B4GALNT3_chr12_454939_568509	543491	CGGGCATG others(77): Show CGGGCATGGGGTGCTCATCCTCCTGGAACTGAGGAGCTGGGACGGGCATG GGGTGCTCATCCTCCTGGAACTGAGGAGCTGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0006 a0006	a0006c0046 a0006c0046	a0006c0046t0003 a0006c0046t0003	a0006c0046t0003g0392 a0006c0046t0003g0392	1	394	0.0025	-84	c.352 others(99): Show c.352-821_352-738delACTGAGGAGCTGGGACGGGCATGGGGTGCT CATCCTCCTGGAACTGAGGAGCTGGGATGGGCATGGGGTGCTCATCCTCC TGGA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BACH2_chr6_89921528_90301843	90251482	ACTCAGTA others(77): Show ACTCAGTACTCTGAAAACCATTAGTTTAGCACATACCCAGCACCTGCTTG ACACATCTTAATCAACACTCTTTTGCTAGTCATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01069.hp1 others(21): Show HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02145.hp1 HG02602.hp1 HG03239.hp1 HG03669.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA20129.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0014	a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 others(18): Show a0001c0001t0014 a0001c0001t0026 a0001c0001t0027 a0001c0001t0045 a0001c0001t0123 a0001c0001t0126 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0133 a0001c0002t0025 a0001c0002t0027 a0001c0002t0125 a0001c0002t0129 a0001c0003t0014 a0001c0003t0132 a0001c0004t0034 a0001c0004t0134 a0001c0005t0127 a0001c0012t0122 a0001c0014t0124	a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0026g0170 others(21): Show a0001c0001t0014g0179 a0001c0001t0014g0180 a0001c0001t0026g0170 a0001c0001t0026g0173 a0001c0001t0027g0187 a0001c0001t0045g0058 a0001c0001t0123g0185 a0001c0001t0126g0182 a0001c0001t0128g0178 a0001c0001t0130g0183 a0001c0001t0131g0189 a0001c0001t0133g0172 a0001c0002t0025g0181 a0001c0002t0025g0186 a0001c0002t0027g0176 a0001c0002t0125g0177 a0001c0002t0129g0191 a0001c0003t0014g0174 a0001c0003t0132g0175 a0001c0004t0034g0009 a0001c0004t0134g0184 a0001c0005t0127g0171 a0001c0012t0122g0188 a0001c0014t0124g0190	24	194	0.1237	-84	c.-27 others(102): Show c.-275+947_-275+1030delATATGACTAGCAAAAGAGTGTTGATTA AGATGTGTCAAGCAGGTGCTGGGTATGTGCTAAACTAATGGTTTTCAGAG TACTGAG	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	3/8			chr6	TogoVar
BAZ2B_chr2_159313979_159621548	159325041	TATTATAT others(77): Show TATTATATATATATATATATTATATATATATATATATTATATATATATAT ATTATATATATATATATATATATATTTTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18979.hp2 HG02615.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0118 a0001c0001t0001g0004 a0001c0001t0001g0118	2	216	0.0093	-84	c.621 others(100): Show c.6210-171_6210-88delTATATATAAAATATATATATATATATATA TATAATATATATATATATAATATATATATATATATAATATATATATATAT ATAAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	35/36			chr2	TogoVar
BBS4_chr15_72681207_72743473	72725798	CCCCCATC others(77): Show CCCCCATCCCCCTTCCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(141): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18957.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19075.hp1 NA19078.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0011 a0012	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0004c0006 a0011c0010 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0004c0006t0001 a0011c0010t0001 a0012c0015t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0292 others(140): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0357 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0376 a0001c0001t0001g0389 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0002g0284 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0328 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0003g0356 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0001t0011g0184 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0383 a0001c0004t0001g0386 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0018 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0336 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0004g0155 a0002c0002t0004g0295 a0002c0002t0009g0236 a0004c0006t0001g0196 a0004c0006t0001g0209 a0011c0010t0001g0311 a0012c0015t0001g0263	144	398	0.3618	-84	c.587 others(101): Show c.587+1157_587+1240delCCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATC CCCCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725861	CCCCCTTT others(77): Show CCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT CCCCATCCCCCTTCCCCCTTTCCCCTTCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	398	0.0025	-84	c.587 others(101): Show c.587+1213_587+1296delTCCCCATCCCCCTTTCCCCATCCCCCTT TCCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTTCCCCTTCCCCCTTT CCCCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCL11A_chr2_60452194_60558654	60467621	GTGGTAAT others(77): Show GTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTACTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGATGGTAC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp2 others(8): Show HG01256.hp1 HG01256.hp2 HG01258.hp2 HG02129.hp2 HG02630.hp2 HG03130.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG04228.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018	a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0058 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0003g0160 a0001c0001t0004g0082 a0001c0001t0005g0219 a0001c0001t0005g0227 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0013g0250 a0001c0001t0018g0211	11	262	0.0420	-84	c.487 others(101): Show c.487+1027_487+1110delGTACCATCACCACCACCACCACCATCAC CATCACCACCAGTACCATCACCATCATCACCACCATCACCACCACCACCA TTACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BFSP2_chr3_133395056_133480208	133418032	CTCTACTC others(77): Show CTCTACTCATCCCTATCCTCTCCCCTCTACTCACCCCTCTAGTCCCCCAT GCCCTCTCGCCTTAACTCACCCCTGCCCTCTACCT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02818.hp1 others(9): Show HG02109.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0130 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0240 a0001c0001t0001g0269 a0006c0009t0001g0167	12	276	0.0435	-84	c.489 others(103): Show c.489+17469_489+17552delTCCCTATCCTCTCCCCTCTACTCACC CCTCTAGTCCCCCATGCCCTCTCGCCTTAACTCACCCCTGCCCTCTACCT TCTACTCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BFSP2_chr3_133395056_133480208	133418046	ATCCTCTC others(77): Show ATCCTCTCCCCTCTACTCACCCCTCTAGTCCCCCATGCCCTCTCGCCTTA ACTCACCCCTGCCCTCTACCTTCTACTCACCCCTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	276	0.0036	-84	c.489 others(103): Show c.489+17498_489+17581delCTAGTCCCCCATGCCCTCTCGCCTTA ACTCACCCCTGCCCTCTACCTTCTACTCACCCCTGTCCTCTCCCCTCTAC TCACCCCT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BICD1_chr12_32101847_32388633	32346554	ATATATAT others(77): Show ATATATATATATATATATATATATATATACGTGTATATATATATATATAT ATATATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19004.hp1 NA19011.hp1 others(1): Show NA18946.hp2 NA19004.hp1 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0029 a0001c0002t0041 a0001c0002t0004 a0001c0002t0029 a0001c0002t0041	a0001c0002t0004g0016 a0001c0002t0004g0117 a0001c0002t0029g0109 others(1): Show a0001c0002t0004g0016 a0001c0002t0004g0117 a0001c0002t0029g0109 a0001c0002t0041g0176	4	290	0.0138	-84	c.276 others(103): Show c.2764+7596_2764+7679delTATATATACGTGTATATATATATATA TATATATATATACGTGTATATATATATATATATACGTGTATATATATATA TATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMPR1B_chr4_94752955_95163448	95162417	ACCCAAAG others(77): Show ACCCAAAGCCTTTCTGTCCCACCGAAGAAACACGTGGCAGCTCTGAACAC GCAAGAGAACCTTGTTATTAAGTGAAGGAGGCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	226	0.0044	-84	c.77 others(95): Show c.7745_*7828delCCCAAAGCCTTTCTGTCCCACCGAAGAAACACGT GGCAGCTCTGAACACGCAAGAGAACCTTGTTATTAAGTGAAGGAGGCAGC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding		3970		chr4	TogoVar
BPHL_chr6_3113711_3158578	3146089	GGGTTGGA others(77): Show GGGTTGGAGTGCTGGTTCCGGTTGGAGTGCTGGTTCGGGTCGGAGTGCTG GTTCGGGTTGGAGTGCTGGTTCGGGGTGGAGTGCT	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	350	0.0029	-84	c.788 others(101): Show c.788+5585_788+5668delGGAGTGCTGGTTCCGGTTGGAGTGCTGG TTCGGGTCGGAGTGCTGGTTCGGGTTGGAGTGCTGGTTCGGGGTGGAGTG CTGGTT	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BRIP1_chr17_61674139_61868528	61787203	ATATATAA others(77): Show ATATATAAAAATATATTATATACTATATAAAATATATAAAAATATATTAT ATACTATATAAAATATATAAAAATATATTATATAC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0083 a0001c0005t0044g0083	1	266	0.0038	-84	c.147 others(103): Show c.1474-2863_1474-2780delGTATATAATATATTTTTATATATTTT ATATAGTATATAATATATTTTTATATATTTTATATAGTATATAATATATT TTTATATA	BRIP1	ENSG00000136492.10	transcript	ENST00000259008.7	protein_coding	10/19			chr17	TogoVar
BTBD19_chr1_44803523_44820585	44816564	ATATATTA others(77): Show ATATATTATATATACACATAGATGTGTGTGTATATATATACACATAGATG TGTGTGTATATTATATATACACATAGATGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	436	0.0023	-84	c.27 others(95): Show c.2793_*2876delTATATTATATATACACATAGATGTGTGTGTATAT ATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		980		chr1	TogoVar
C10orf90_chr10_126419997_126675693	126672434	GCAGGACT others(77): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02257.hp2 HG02622.hp2 others(3): Show HG00735.hp1 HG02257.hp2 HG02622.hp2 HG02976.hp1 HG03130.hp2 NA18522.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0011	a0001c0001 a0005c0006 a0007c0018 others(1): Show a0001c0001 a0005c0006 a0007c0018 a0011c0027	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0005c0006t0002 a0007c0018t0003 a0011c0027t0001	a0001c0001t0001g0038 a0001c0001t0003g0035 a0001c0001t0005g0039 others(3): Show a0001c0001t0001g0038 a0001c0001t0003g0035 a0001c0001t0005g0039 a0005c0006t0002g0197 a0007c0018t0003g0037 a0011c0027t0001g0036	6	218	0.0275	-84	c.-20 others(95): Show c.-2038_-1955delGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C1QTNF8_chr16_1083226_1101244	1092950	AGCACACA others(77): Show AGCACACAGTCGGCGCTCAACCAATCCCTGCACACAGTCGGCGCTCAATC AATCCCTGCACACAGTCGGCGCTCAACCAATCCCT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	396	0.0025	-84	c.4+ others(97): Show c.4+463_*4+546delAGGGATTGGTTGAGCGCCGACTGTGTGCAGGG ATTGATTGAGCGCCGACTGTGTGCAGGGATTGGTTGAGCGCCGACTGTGT GC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C2orf81_chr2_74409177_74426619	74423581	GTGGCCAG others(77): Show GTGGCCAGGAGAATAATGAGGGCCTGAGGAAATTGTGGAAAGTTAGAGGG AAGGGTGGAAGTGGAGTGGAATCAGAGACTCCAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	402	0.0025	-84	c.-21 others(95): Show c.-2105_-2022delACTGGAGTCTCTGATTCCACTCCACTTCCACCCT TCCCTCTAACTTTCCACAATTTCCTCAGGCCCTCATTATTCTCCTGGCCA	C2orf81	ENSG00000284308.2	transcript	ENST00000684111.1	protein_coding		1963		chr2	TogoVar
C7orf50_chr7_992006_1143247	1041274	ACCTGGGC others(77): Show ACCTGGGCTCCGCGCTGCGGGGAAGGGGACCTGGGGTCCGCGCTGCGGGG AAGGGGGCCTGGGGTCCGCGCTGCGGGGAAGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00738.hp1 others(26): Show HG00642.hp1 HG00733.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02145.hp1 HG02280.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03239.hp1 HG03453.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18961.hp1 NA18965.hp2 NA18983.hp1 NA18994.hp2 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0004c0014t0006	a0001c0001t0001g0007 a0001c0001t0002g0242 a0001c0001t0005g0314 others(26): Show a0001c0001t0001g0007 a0001c0001t0002g0242 a0001c0001t0005g0314 a0001c0001t0006g0081 a0001c0001t0006g0085 a0001c0001t0006g0087 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0103 a0001c0001t0010g0119 a0001c0001t0011g0206 a0001c0001t0011g0207 a0001c0001t0012g0291 a0001c0001t0012g0292 a0001c0001t0012g0310 a0001c0001t0012g0312 a0001c0001t0012g0313 a0001c0001t0017g0084 a0001c0001t0017g0096 a0001c0001t0022g0019 a0004c0014t0006g0003	29	326	0.0890	-84	c.130 others(103): Show c.130-31215_130-31132delCCCCCTTCCCCGCAGCGCGGACCCCA GGCCCCCTTCCCCGCAGCGCGGACCCCAGGTCCCCTTCCCCGCAGCGCGG AGCCCAGG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf74_chr8_10667628_10705590	10674412	TAGCCCCC others(77): Show TAGCCCCCATATCATATCCTGCAACCCCCATAGCACACCCTGTAGCCCCC ATATCATGCCCTGCAACCCCCATATCACACCATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp1 others(43): Show HG00099.hp1 HG00280.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03490.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0013t0001 a0002c0003t0002 a0001c0001t0001 a0001c0013t0001 a0002c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0013t0001g0295 a0002c0003t0002g0095	46	430	0.1070	-84	c.49- others(97): Show c.49-219_49-136delATCCTGCAACCCCCATAGCACACCCTGTAGCC CCCATATCATGCCCTGCAACCCCCATATCACACCATGCAGCCCCCATATC AT	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
CACNG3_chr16_24251335_24367412	24317638	GAAAGAAA others(77): Show GAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	366	0.0027	-84	c.212 others(103): Show c.212-29087_212-29004delGAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAAGAAAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12401033	AAATATAT others(77): Show AAATATATGTATTATATATATTATATATATATTTTATATATATAATATAT GTATTATATATATTATATATATATTTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01074.hp2 others(16): Show HG00280.hp1 HG00642.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01975.hp1 HG02132.hp2 HG02258.hp2 HG03486.hp2 HG03491.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18948.hp1 NA18977.hp2 NA19043.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0028 a0001c0001t0036 a0001c0001t0071 a0001c0001t0084 a0001c0001t0087 a0001c0001t0096 a0001c0001t0098 a0001c0001t0105 a0001c0001t0110 a0001c0002t0025 a0001c0002t0045	a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0002g0126 others(16): Show a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0002g0126 a0001c0001t0002g0177 a0001c0001t0002g0196 a0001c0001t0004g0017 a0001c0001t0018g0013 a0001c0001t0028g0099 a0001c0001t0036g0022 a0001c0001t0036g0125 a0001c0001t0071g0121 a0001c0001t0084g0119 a0001c0001t0087g0124 a0001c0001t0096g0098 a0001c0001t0098g0037 a0001c0001t0105g0111 a0001c0001t0110g0150 a0001c0002t0025g0146 a0001c0002t0045g0118	19	214	0.0888	-84	c.92+ others(101): Show c.92+51167_92+51250delATATATGTATTATATATATTATATATAT ATTTTATATATATAATATATGTATTATATATATTATATATATATTTTATA TATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623139	TCCTCCCT others(77): Show TCCTCCCTTCCTTCCTCCCTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCC CTCCGTCCCTCCCTCCTTTCTTTCCTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(57): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00735.hp2 HG01069.hp2 HG01106.hp2 HG01168.hp2 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18971.hp2 NA18989.hp1 NA19043.hp1 NA19043.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0059 a0001c0001t0064 a0001c0001t0074 a0001c0001t0076 a0001c0001t0084 a0001c0001t0088 a0001c0001t0105 a0001c0001t0111 a0001c0001t0113 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0016 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0032 a0001c0002t0045 a0001c0002t0051 a0001c0002t0057 a0001c0002t0060 a0001c0002t0061 a0001c0002t0068	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082 others(57): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0082 a0001c0001t0001g0173 a0001c0001t0002g0032 a0001c0001t0002g0088 a0001c0001t0002g0172 a0001c0001t0003g0141 a0001c0001t0004g0025 a0001c0001t0005g0062 a0001c0001t0006g0073 a0001c0001t0006g0152 a0001c0001t0006g0178 a0001c0001t0006g0187 a0001c0001t0009g0100 a0001c0001t0009g0122 a0001c0001t0011g0018 a0001c0001t0013g0107 a0001c0001t0013g0155 a0001c0001t0018g0013 a0001c0001t0020g0158 a0001c0001t0030g0092 a0001c0001t0033g0185 a0001c0001t0034g0083 a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0001t0036g0022 a0001c0001t0036g0125 a0001c0001t0040g0055 a0001c0001t0042g0085 a0001c0001t0043g0026 a0001c0001t0046g0074 a0001c0001t0059g0192 a0001c0001t0064g0105 a0001c0001t0074g0060 a0001c0001t0076g0128 a0001c0001t0084g0119 a0001c0001t0088g0087 a0001c0001t0105g0111 a0001c0001t0111g0028 a0001c0001t0113g0034 a0001c0002t0004g0077 a0001c0002t0004g0091 a0001c0002t0008g0153 a0001c0002t0010g0079 a0001c0002t0010g0209 a0001c0002t0015g0050 a0001c0002t0016g0006 a0001c0002t0016g0165 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0026g0166 a0001c0002t0027g0116 a0001c0002t0032g0008 a0001c0002t0045g0118 a0001c0002t0051g0179 a0001c0002t0057g0005 a0001c0002t0060g0104 a0001c0002t0061g0033 a0001c0002t0068g0021	60	214	0.2804	-84	c.225 others(103): Show c.225-43589_225-43506delTCCTTCCTCCCTCCTTTCTTTCCTTC CTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCTTTCTTTCCTCCCTCCCT CCCTCCCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12623183	CCGTCCCT others(77): Show CCGTCCCTCCGTCCCTCCCTCCTTTCTTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTTCCTCCCTCCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(57): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01975.hp1 HG02074.hp1 HG02080.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18959.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp1 NA18999.hp2 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0058 a0001c0001t0070 a0001c0001t0075 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0087 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0110 a0001c0002t0004 a0001c0002t0015 a0001c0002t0021 a0001c0002t0024 a0001c0002t0055 a0001c0002t0067 a0001c0003t0007	a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0130 others(57): Show a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0191 a0001c0001t0002g0126 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0003g0167 a0001c0001t0003g0195 a0001c0001t0004g0017 a0001c0001t0005g0015 a0001c0001t0005g0054 a0001c0001t0005g0137 a0001c0001t0005g0204 a0001c0001t0006g0075 a0001c0001t0006g0194 a0001c0001t0007g0078 a0001c0001t0009g0072 a0001c0001t0009g0213 a0001c0001t0012g0174 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0200 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0030g0188 a0001c0001t0031g0170 a0001c0001t0033g0138 a0001c0001t0034g0202 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0175 a0001c0001t0041g0080 a0001c0001t0047g0066 a0001c0001t0048g0182 a0001c0001t0049g0101 a0001c0001t0058g0093 a0001c0001t0070g0123 a0001c0001t0075g0210 a0001c0001t0078g0199 a0001c0001t0080g0160 a0001c0001t0081g0096 a0001c0001t0083g0061 a0001c0001t0087g0124 a0001c0001t0096g0098 a0001c0001t0097g0065 a0001c0001t0099g0043 a0001c0001t0100g0135 a0001c0001t0110g0150 a0001c0002t0004g0171 a0001c0002t0004g0208 a0001c0002t0015g0148 a0001c0002t0021g0048 a0001c0002t0024g0127 a0001c0002t0024g0131 a0001c0002t0055g0207 a0001c0002t0067g0053 a0001c0003t0007g0063	60	214	0.2804	-84	c.225 others(103): Show c.225-43551_225-43468delGTCCCTCCGTCCCTCCCTCCTTTCTT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCTTTC TTTCCTTC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44409099	ATATATAT others(77): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02630.hp1 HG02647.hp2 others(13): Show HG01099.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0103 a0001c0001t0001g0198 a0001c0001t0002g0011 a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0102 a0001c0001t0005g0005 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0012	16	198	0.0808	-84	c.376 others(103): Show c.376+18800_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATGTATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN11_chr6_44153820_44189401	44181742	TCACACAC others(77): Show TCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03209.hp2 HG03225.hp1 HG03540.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0003 a0005c0010 a0001c0001 a0003c0003 a0005c0010	a0001c0001t0001 a0003c0003t0002 a0005c0010t0001 a0001c0001t0001 a0003c0003t0002 a0005c0010t0001	a0001c0001t0001g0278 a0003c0003t0002g0381 a0005c0010t0001g0226 a0001c0001t0001g0278 a0003c0003t0002g0381 a0005c0010t0001g0226	3	460	0.0065	-84	c.193 others(101): Show c.1938+435_1938+518delTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC102B_chr18_68793080_69060189	68956466	TATATATT others(77): Show TATATATTATATATATATAATATATATATAAAATATATAATATATATATC GCATATTATATATATTATATATTTTATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02109.hp2 others(10): Show HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG03195.hp1 HG03579.hp1 NA18906.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0010 a0011 a0014 a0019 a0020 a0023	a0001c0003 a0003c0004 a0005c0008 others(6): Show a0001c0003 a0003c0004 a0005c0008 a0010c0034 a0011c0015 a0014c0018 a0019c0038 a0020c0035 a0023c0032	a0001c0003t0001 a0003c0004t0001 a0005c0008t0001 others(7): Show a0001c0003t0001 a0003c0004t0001 a0005c0008t0001 a0010c0034t0002 a0011c0015t0001 a0014c0018t0001 a0014c0018t0004 a0019c0038t0001 a0020c0035t0001 a0023c0032t0006	a0001c0003t0001g0128 a0003c0004t0001g0009 a0003c0004t0001g0160 others(9): Show a0001c0003t0001g0128 a0003c0004t0001g0009 a0003c0004t0001g0160 a0005c0008t0001g0001 a0010c0034t0002g0173 a0011c0015t0001g0012 a0011c0015t0001g0013 a0014c0018t0001g0123 a0014c0018t0004g0124 a0019c0038t0001g0168 a0020c0035t0001g0147 a0023c0032t0006g0003	13	216	0.0602	-84	c.126 others(105): Show c.1264-54463_1264-54380delATTATATATATATAATATATATAT AAAATATATAATATATATATCGCATATTATATATATTATATATTTTATAT ATATAAATAT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC126_chr7_23592382_23649708	23637739	CGTCCGGG others(77): Show CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCAGCCGCCCAGTCCGGGA GGGAGGCGGGGAGGGGGGGGTCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp2 others(48): Show HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01123.hp2 HG01993.hp2 HG02071.hp2 HG02135.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG03017.hp1 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp1 NA18954.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18975.hp2 NA18979.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0178 a0001c0001t0001g0179 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0319 a0003c0005t0001g0271	51	380	0.1342	-84	c.239 others(101): Show c.239-5181_239-5098delTGAGGGGCGCCTCTGCCCGGCCAGCCGC CCAGTCCGGGAGGGAGGCGGGGAGGGGGGGGTCGGCCAGCCGCCCTGTCC GGGAGG	CCDC126	ENSG00000169193.12	transcript	ENST00000307471.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar

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