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
C4orf50_chr4_5954375_6023431	6004577	G G	GATATTGA others(395): Show GATATTGATGGTGATGATATTGATGGTGATGATGGTGATGGTGATGATGT GATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGA TGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGG TGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGAGATGGAGATGTTGGTGATGATGGTGATGGTGGTGAT GAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18975.hp1 HG03834.hp1 NA18975.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0080 a0006c0006t0001g0139 a0001c0001t0001g0080 a0006c0006t0001g0139	2	337	0.0059	402	c.963 others(419): Show c.963+3418_963+3419insATCATCACCACCATCACCATCATCACCA ACATCTCCATCTCCATCACCATCACCATCATCACCATCACCATCATCACC ATCACCGTCATCATCACCATCACCATCATCACCATCACCATCATCACCAT CATCACCATCATCACCATCATCACCATCATCACCATCACCATCATCACCA TCACCATCATCACCATCATCACCATCACCATCACCATCATCACCATCACC ATCATCACCATCATCACTATCATCACCATCACATCATCACCATCACCATC ATCACCATCATCACCATCATCAACATCATCACCATCACCATCATAACTAT CACCATCATCACCATCATCACCATCACATCATCACCATCACCATCATCAC CATCAATATCATCACCATCAATAT	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(395): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCCTCCCCTCCTCTCCTCTC CTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCC CTCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCT CACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCC CTCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCT CCCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTC CTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCC CTCCTCTCCCCTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCCCT CCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	3	0.3333	402	c.255 others(419): Show c.2556+654_2556+655insCTCCCCTCCTCTCCTCTCCTTTCTTCTC CTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCC CTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTC CTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCT CTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGT CCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCC CTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCC CTCCCCTCCTCTCCTATCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCA CCCCTCTCCTCCCTTCCCCTCCCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54970467	G G	GTTCCTCA others(395): Show GTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCCTCCTCTCCTCTC CTTTCTTCTCCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCC CTCCCCTCCCCTCCTCTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCT CACCCCTCTCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCC CTCCCCTCCTCTCCCCTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCT CCCTTCCTGTCCCCTCCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTC CTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCC CTCCTCTCCCCTCCCCTCCTCTCCTGTCCTTTCTTCTCCTCTCCTCCCCT CCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0078 a0001c0042t0001g0078	1	3	0.3333	402	c.255 others(419): Show c.2556+659_2556+660insCTCCTCTCCTCTCCTTTCTTCTCCTCTC CTCCCCTCCCTTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCT CTCCTCTCCTTTCTTCTCTCCTCCCCTCCCTTCCTCACCCCTCTCCTCCC TTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTTCCCTCCCCTCCTCTCCC CTCCTCTCTTCCCCTCCCTTCTTCACCCCTCTCCTCCCTTCCTGTCCCCT CCTCTCCCCCGCCTCCCCTCCTCTCCTTTCTTCTCCTCTCCTCCCCTCCC TTCCTCACCCCTCTCCTCCCTTCCCCTCCCCTCCCCTCCTCTCCCCTCCC CTCCTCTCCTGTCCTTTCTTCTCCTCTCCTCCCCTCCTTTCCTCACCCCT CTCCTCCCTTCCCCTCCCCTCCCC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	29/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(395): Show ATATATATAATTATATATATAATTATATATATATAATTATATATATATAA TTATATATTTTTATATATATAATTATATATATAATTTTATATATATATAA TTATATATAATTATATATATATAATTATATATATTATATATATAATTATA TATATATATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATAATTATATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATAATTATATATATATAATTTTATATATATAATTATATATATATAATT TTATATATATATAATTATATATAATTTTATATATATATAATTATATATAT AAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01256.hp2 HG01258.hp2 others(16): Show HG01071.hp2 HG01256.hp2 HG01258.hp2 HG02027.hp1 HG02056.hp1 HG02135.hp1 NA18943.hp1 NA18953.hp2 NA18960.hp1 NA18964.hp2 NA18984.hp1 NA18994.hp1 NA19005.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0048 a0001c0001t0002g0070 a0001c0001t0002g0074 others(16): Show a0001c0001t0002g0048 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0138 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0002g0308 a0002c0004t0002g0050 a0002c0004t0002g0052 a0002c0004t0002g0053 a0002c0004t0002g0054 a0002c0004t0002g0078 a0002c0004t0002g0079 a0002c0004t0002g0092 a0002c0004t0002g0093 a0002c0004t0002g0151 a0002c0004t0002g0208 a0002c0004t0002g0228 a0002c0004t0002g0252	19	277	0.0686	402	c.907 others(417): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTA TATATATATAATTATATATATAAAATTATATATATAATTATATATATATA AAATTATATATATAATATATATATATAATTATATATATAATATATATAAT TATATATATATAATTATATATAATTATATATATATAAAATTATATATATA ATTATATATATAAAAATATATAATTATATATATATAATTATATATATATA ATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(395): Show ATATATATAATTATATATATAATTATATATATATATAATTATATATATAT AATTATATATTTTTATATATATAATTATATATATAATTTTATATATATAT AATTATATATAATTATATATATATAATTATATATATTATATATATAATTA TATATATATATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATAAAATTATATATATAATTTTATATAT AAAATTATATATATAATTTTATATATATAATTATATATATAATTTTATAT ATATAATTATATATATATAATTTTATATATATAATTATATATATATAATT TTATATATATATAATTATATATAATTTTATATATATATAATTATATATAT AAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18959.hp2 NA18999.hp2 HG03704.hp1 NA18959.hp2 NA18999.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0047 a0002c0004t0002g0244 a0002c0004t0002g0265 a0002c0004t0002g0047 a0002c0004t0002g0244 a0002c0004t0002g0265	3	261	0.0115	402	c.907 others(417): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATATAATTATATATATAAAATTATATATATAATTATATA TATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTA TATATATAATTATATATATAAAATTATATATATAATTATATATATATAAA ATTATATATATAATATATATATATAATTATATATATAATATATATAATTA TATATATATAATTATATATAATTATATATATATAAAATTATATATATAAT TATATATATAAAAATATATAATTATATATATATAATTATATATATATATA ATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(395): Show ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAA TTATATATATATAATTATATATATATAATTATATATTTTTATATATATAA TTATATATATAATTTTATATATATATAATTATATATAATTATATATATAT AATTATATATATTATATATATAATTATATATATATATTATATATATAATT TTATATATATATAATTATATATATAATTTTATATATATAATTATATATAT ATAAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATAATTATATATATATAATT TTATATATATATAATTATATATAATTTTATATATATATAATTATATATAT AAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	259	0.0039	402	c.907 others(417): Show c.907+283_907+284insATTATATATATAATTATATATATATAAAAT TATATATAATTATATATATATAAAATTATATATATATAATTATATATATA AAATTATATATATAATTATATATATAAAATTATATATATAATTTTATATA TAAAATTATATATATAATTTTATATATATATAATTATATATATAAAATTA TATATATAATTATATATATATAAAATTATATATATAATATATATATATAA TTATATATATAATATATATAATTATATATATATAATTATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAAATATATAATTATA TATATATAATTATATATATATAATTATATATATAATTATATATATAAAAT TATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181748	A A	ATACACAC others(395): Show ATACACACTCACATACAGACACAACCACACCACACACACACATACACTCA CAGACACAACCACACCACACACACACACACACACTCACATACAGACACAA CCACACCACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACAGACACAACCACACCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACACACTCA CATACAGACACAACCACACCACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	387	0.0026	402	c.193 others(419): Show c.1938+428_1938+429insTACACACTCACATACAGACACAACCACA CCACACACACACATACACTCACAGACACAACCACACCACACACACACACA CACACTCACATACAGACACAACCACACCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACAGACACAA CCACACCACACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACACACACTCACATACAGACACAACCACACCACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACT	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22			chr6	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(395): Show GGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0284 a0001c0001t0011g0284	1	221	0.0045	402	c.303 others(421): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCT CCCCGCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDH4_chr20_61247261_61945617	61444267	G G	GTGTCTCC others(395): Show GTGTCTCCGTGTGTCTTTGTGTGTGTATATGTGTGTTTGTGTATCTGTAT ATGAGTCTTTGTGTGTGTTTCTGTGTATCTGTGTGTGTCCATGTCTATGT GTGTCTGTGTGTGTATGTATGTCTGGGTGTATATCTGTGTGTGTGTCTTT GCGTTCACCTGTGTGTGTGTGCATCTGTGTGTACATTTGTGTGTTTCTGC ATGTGTGTGTCTGCGTACATCTGTGTCTGTGTGTATATTTGTGTATCCGT ATGTATGTGTATCTGTGTGTGTCTTTGTGTACATCCGTGTCTGTGTGTAT ATTTGTATCTGTGTGTTTCTCTGTGTGCATCTGTGTATATTTGTGAGTTT CTGCATGTGTGTGTGTGTCTGTGTGTGTGTCTGTGTATCTATTTGTATGT ATC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 NA19240.hp1 HG01109.hp1 HG02257.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0032 a0002c0002t0003g0069 a0001c0001t0001g0005 a0001c0001t0001g0032 a0002c0002t0003g0069	3	94	0.0319	402	c.169 others(423): Show c.169+189333_169+189334insCTCCGTGTGTCTTTGTGTGTGTAT ATGTGTGTTTGTGTATCTGTATATGAGTCTTTGTGTGTGTTTCTGTGTAT CTGTGTGTGTCCATGTCTATGTGTGTCTGTGTGTGTATGTATGTCTGGGT GTATATCTGTGTGTGTGTCTTTGCGTTCACCTGTGTGTGTGTGCATCTGT GTGTACATTTGTGTGTTTCTGCATGTGTGTGTCTGCGTACATCTGTGTCT GTGTGTATATTTGTGTATCCGTATGTATGTGTATCTGTGTGTGTCTTTGT GTACATCCGTGTCTGTGTGTATATTTGTATCTGTGTGTTTCTCTGTGTGC ATCTGTGTATATTTGTGAGTTTCTGCATGTGTGTGTGTGTCTGTGTGTGT GTCTGTGTATCTATTTGTATGTATCTGT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CEP72_chr5_607340_658553	628626	G G	GGGGAGTG others(395): Show GGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAA CTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTT GTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGG ACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCC CGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGA ACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTT TGTGCAGCTTCTGGAGAACTCTGGTTGCCGTCCCCGGGGAGTGTTCCCAG GACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCC CCA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	81	0.0123	402	c.512 others(419): Show c.512+4054_512+4055insTTCCCACGACCCAGCCCCCTTCTTTGTG CAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGACC CAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGG GGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACT CAGGTTGCAGTCCCCGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGT GCAGCTTCTGGAGAACTCAGGTCACCGTCCCCGGGGAGTGGCCCCAGGAC CCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGCCGTCCCCG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCAGGTTGCCGTCCCCAGGGAGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	628707	G G	GGACCCAG others(395): Show GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTC CCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGA GAACTCAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTTC TTTGTGCAGCTTCTGGAGAACTCTGGTTGCCGTCCCCGGGGAGTGTTCCC AGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGT CCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGG AGAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTT CTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGTTCC CAC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	87	0.0115	402	c.512 others(419): Show c.512+4170_512+4171insCGCAGTCCCTGGGGAGTGTTCCCAGGAC CCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCTG GGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAAC TCTGGTTGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTG TGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGA CCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCC GGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAA CTCAGGTCGCAGTCCCCGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTT GTGCAGCTTCTGGAGAACTCAGGT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(395): Show CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACT GTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGT GGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01175.hp2 HG02015.hp2 others(4): Show HG00673.hp2 HG01175.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 NA18948.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0062	7	29	0.2414	402	c.177 others(421): Show c.1779-1959_1779-1958insTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACT GTGAGGTGTGACTGAGGTGTGACTGTGGGTGTGAGGTGTGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(395): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCT TTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	8	0.1250	402	c.69 others(413): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCT TATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGATAGA others(395): Show TGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATG GATGGATGGATGGATGGATAGATGGATGGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0008 a0001c0024t0008	a0001c0024t0008g0176 a0001c0024t0008g0176	1	4	0.2500	402	c.342 others(421): Show c.3423-4247_3423-4246insGATAGATGGGTGGGTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATG GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89648747	T T	TGGGCATG others(395): Show TGGGCATGGTGGTGGATGCCTGTGGTCTCAGCTACTTGGGAGGCTGAGGC AGGAGGATCGCTTGAGCCCAGGAGGTTGAGACCAGAGTGGCCAACATAGA CACCCTGTCTCTACTTAAAAATGAAAAAATCAGCCGGGCATGGTGGTGGA TGCCTGTGGTCTCAGCTACTTGCGAGGCTGAGGCAGGAGGATTGCTTGAG CCCAGGAGGTTGAGACCAGAGTGGCCAACATAGACACCCTGTCTCTACTT AAAAATGAAAAAATCAGCCGGGCATGGTGGTGGATGCCTGTGGTCTCAGC TACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCCAGGAGGTTGAGAC CAGAGTGGCCAACATAGACACCCTGTCTCTACTTAAAAATGAAAAAATCA GCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0229 a0001c0001t0002g0230	2	337	0.0059	402	c.252 others(417): Show c.252+603_252+604insGGCTGATTTTTTCATTTTTAAGTAGAGACA GGGTGTCTATGTTGGCCACTCTGGTCTCAACCTCCTGGGCTCAAGCGATC CTCCTGCCTCAGCCTCCCAAGTAGCTGAGACCACAGGCATCCACCACCAT GCCCGGCTGATTTTTTCATTTTTAAGTAGAGACAGGGTGTCTATGTTGGC CACTCTGGTCTCAACCTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCCTC GCAAGTAGCTGAGACCACAGGCATCCACCACCATGCCCGGCTGATTTTTT CATTTTTAAGTAGAGACAGGGTGTCTATGTTGGCCACTCTGGTCTCAACC TCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACC ACAGGCATCCACCACCATGCCC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(395): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC GTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACGTAT ATATACTCATATACGTGTGTATATACACGTATATATACTCATATACATGT GTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02165.hp2 NA18973.hp1 HG02080.hp2 HG02165.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0269 a0001c0001t0002g0340 a0001c0001t0002g0236 a0001c0001t0002g0269 a0001c0001t0002g0340	3	355	0.0085	402	c.894 others(417): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACGTATATGAGTATATATACGTGTATATACACACGTATATGAG TATATATACGTGTATATACACACGTATATGAGTATATATACGTGTATATA CACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAG TATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATA TACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL4A3_chr2_227159624_227319792	227202853	G G	GTATATAT others(395): Show GTATATATGTGTATATATGTGTATATATACATATATGTGTATATATACGT ATATATACATATATGTGTATATATACGTATATATACATATATGTGTATAT ATACGTATATATACATATATGTGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACATATATGTGTAT ATATGTGTATATATACATATATGTGTATATATACACATATATGTGTATAT ATACATATATGTGTATATATGTGTATATATACATATATGTGTATATATAC ATATATGTGTATATATGTGTATATATACATATATGTGTATATATGTGTAT ATATACATATATGTGTATATATACATATATGTGTATATATGTGTATATAT ACA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19070.hp2 HG02083.hp2 NA19070.hp2	a0014 a0016 a0014 a0016	a0014c0037 a0016c0025 a0014c0037 a0016c0025	a0014c0037t0002 a0016c0025t0004 a0014c0037t0002 a0016c0025t0004	a0014c0037t0002g0118 a0016c0025t0004g0180 a0014c0037t0002g0118 a0016c0025t0004g0180	2	332	0.0060	402	c.88- others(419): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGTATATATACATATATGTGTATATAT ACATATATGTGTATATATGTGTATATATACATATATGTGTATATATACAC ATATATGTGTATATATACATATATGTGTATATATGTGTATATATACATAT ATGTGTATATATACATATATGTGTATATATGTGTATATATACATATATGT GTATATATGTGTATATATACATATATGTGTATATATACATATATGTGTAT ATATGTGTATATATACATATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923800	G G	GTCCCCAC others(395): Show GTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTA ACCCAGCCCCCAACACTAACCCAGCCCCCACACTGACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCC ACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGT CCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAG CCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCC AGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0001 a0001c0060t0001	a0001c0060t0001g0171 a0001c0060t0001g0171	1	280	0.0036	402	c.488 others(419): Show c.488+1155_488+1156insTCCCCACACTAACCCAGCCCCCAACACT AACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCC ACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCC CCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCAACACTAACCCA GCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACC CAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAAC CCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTA ACCCAGCCCCCACACTAACCCAGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(395): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTG TCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCA TTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	314	0.0032	402	c.513 others(417): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCT GCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCAC CACCACCTGTCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(395): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGC TGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTG CCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACCAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	314	0.0032	402	c.513 others(417): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCC ACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCA CCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYP2C19_chr10_94757681_94860547	94824979	C C	CATGAACT others(395): Show CATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGT GCCACATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCG ATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAG GAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp2 HG02717.hp1 others(5): Show HG02109.hp1 HG02602.hp2 HG02717.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0288 a0001c0001t0003g0291 others(4): Show a0001c0001t0003g0027 a0001c0001t0003g0288 a0001c0001t0003g0291 a0001c0001t0003g0302 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0001t0003g0327	8	322	0.0248	402	c.961 others(419): Show c.961+4404_961+4405insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTA CATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCAT CTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCC CACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCT CATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTT GTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTC CCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCAT GGTGTATATGTGCCACATTTTCTT	CYP2C19	ENSG00000165841.11	transcript	ENST00000371321.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(395): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGG AGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGA GGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGG AGGGGAGGGGGAGGGGAGTGGAAGGGGGAGTGGAAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAGGGGAAGGGGAG GGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGG AGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0021 a0003c0003t0012 a0002c0002t0021 a0003c0003t0012	a0002c0002t0021g0168 a0003c0003t0012g0086 a0002c0002t0021g0168 a0003c0003t0012g0086	2	98	0.0204	402	c.923 others(421): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCC CTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCT CCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTC CATTCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATT CCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397652	C C	CGGGGTGG others(395): Show CGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	355	0.0028	402	c.-43 others(413): Show c.-4312_-4311insGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4232		chr16	TogoVar
DIP2C_chr10_269201_694668	478262	A A	AGGAGGGG others(395): Show AGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG AAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGA GGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGG AGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGAGAAGAAGGAGGGAGAA GAGGGAGGGGAGAAGAAGGGAGGGAGAAGAAGGGAGGGGAGAGAAGGGAG GGGAGAGAAGGGAGGGGAGAGAAGGGAGGAGAGGGGAGGGGAGGGAGAAG AAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0015	1	56	0.0179	402	c.158 others(419): Show c.158-5714_158-5713insCTTCTTCTCCCTCCCCTCCCCTCTCCTC CCTTCTCTCCCCTCCCTTCTCTCCCCTCCCTTCTCTCCCCTCCCTTCTTC TCCCTCCCTTCTTCTCCCCTCCCTCTTCTCCCTCCTTCTTCTCCCTCCCT TCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCC TCCCCTCCCTTCTTCTCCCCTCCCTCCCCTCCCTTCTTCTCCCCTCCCCT CCCCTCCCCTCCCTTCTCCCCTCCCTCCCCTCCCCTCCCTTCTTCTCCCC TCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCTTCTCCTCCCCTCCCCTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947654	G G	GGTTGGTA others(395): Show GGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTG GTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0084 a0001c0005t0006g0084	1	124	0.0081	402	c.47- others(419): Show c.47-23023_47-23022insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAG TTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(395): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA CCACCACCACCTCCATCACCACCACCACCACCACCACCACCACTTCCACC ATCACCACCTCCTTCACCATCACCACCACCACCACCACCACCACCACCTC CACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCA CCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCC AAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0012 a0001 a0012	a0001c0031 a0012c0092 a0001c0031 a0012c0092	a0001c0031t0006 a0012c0092t0001 a0001c0031t0006 a0012c0092t0001	a0001c0031t0006g0127 a0012c0092t0001g0076 a0001c0031t0006g0127 a0012c0092t0001g0076	2	156	0.0128	402	c.323 others(421): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCACCACCACCACCTCCATCACCACCACCAC CACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCACCA CCACCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACC ACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATAT TATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556341	A A	ATATATAT others(395): Show ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0179 a0001c0010t0001g0179	1	248	0.0040	402	c.355 others(421): Show c.355-25620_355-25619insGTATATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(395): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATAGTATATATATAGTATATATAGTATATATGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATA TAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	172	0.0058	402	c.355 others(421): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATATAGTATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTGTATATATATAGTATATATATATAG TGTATATATATAGTATATATATAGTATATATATAGTATATATAGTATATA TGTATATATATATAGTATATATATAGTATATATATATAGTATATATATAG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(395): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATATTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATATGTTTACACATATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01069.hp1 others(13): Show HG00280.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG01981.hp2 HG02683.hp1 HG02698.hp2 HG03704.hp1 HG04184.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 others(13): Show a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0036 a0001c0001t0005g0037	16	18	0.8889	402	c.477 others(421): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTACAC ATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(395): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATGTGTAAATATACCTGTGTGTATGTTTACAC ATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGTAA ATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	3	0.3333	402	c.477 others(421): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTGTGTGTATGTTTACACATATATGTGTAA ATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTGTGT GTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTACAC ATATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EHMT1_chr9_137614005_137841127	137716086	T T	TGGGGGAG others(395): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATG GTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	166	0.0060	402	c.86- others(415): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCAT GGTGGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(395): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCCT CTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAGC TGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCCGCCCGGCCAGC CACCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	2	0.5000	402	c.976 others(417): Show c.976-879_976-878insCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCC TCACCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAAT TCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGC GGGTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCG GCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
ERRFI1_chr1_8006727_8031309	8027004	C C	CAGTGTGG others(395): Show CAGTGTGGGACGGTGAGGGACAGTGTGGGACGGTGAGGGACAGTGTGGGA CGGTGAGGGACGGTGTGGGACGGTGAGGGACGGTGAGGGACAGTGTGGGA CGGTGAGGGACAGTGAGGGACTGTGTGGGACAGTGAGGGACAGTGTGGGA CGGTGAGGGACAGTGAGGGACTGTGTAGGACAGTGAGGGACAGTGTGGGA CGGTGAGGGACAGTGTGGGACGGTGAGGGACAGTGTGGGACGGTGAGGGA CAGTGTGGGACGGTGAGGGACAGTGAGGGACAGTGTGGGACGGTGAGGGA CAGTGAGGGACTGTGTAGGACAGTGAGGGACAGTGTGGGACGGTGAGGGA CAGTGAGGGACTGTGTAGGACAGTGAGGGACAGTGTGGGACGGTGAGGGA CTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02965.hp1 HG03209.hp2 others(5): Show HG02145.hp1 HG02965.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0031 a0001c0003t0001g0051 a0001c0003t0001g0014 a0001c0003t0001g0031 a0001c0003t0001g0051	8	91	0.0879	402	c.-92 others(411): Show c.-921_-920insCAGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC TACACAGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC TACACAGTCCCTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCC CTCACCGTCCCACACTGTCCCTCACCGTCCCACACTGTCCCTCACCGTCC CACACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCCTACACAGTCC CTCACTGTCCCTCACCGTCCCACACTGTCCCTCACTGTCCCACACAGTCC CTCACTGTCCCTCACCGTCCCACACTGTCCCTCACCGTCCCTCACCGTCC CACACCGTCCCTCACCGTCCCACACTGTCCCTCACCGTCCCACACTGTCC CTCACCGTCCCACACT	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		696		chr1	TogoVar
ETDB_chrX_135113955_135125526	135115016	T T	TATGATAT others(395): Show TATGATATATAATTATATATATTACATATCATATATAATCTTAATATATT ATATATTATATTATATATTATTATATATAATATATTATATATTACATAAC ATATATATTATTATAATATATAATATATTATATATTATATTATATATAAT AATATATTATATATTATATTATATATAATAATATATAATATGTTATATTA TATATTATATTATATATAATAATATGTAATATATAATTATATTATATACT ATTATAATAATTATAATAATATTAATATTATATTATAATTATAATAGACA CATATAATAATAATTATAATAATTAGCAGATTATTTTATAATAATATTAT ATAATATGTATTAATAACATATAATATAATATACAATCTATTACTATATA ATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	314	0.0032	402	c.40 others(413): Show c.4065_*4066insCATTATATAGTAATAGATTGTATATTATATTATA TGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCTAATTA TTATAATTATTATTATATGTGTCTATTATAATTATAATATAATATTAATA TTATTATAATTATTATAATAGTATATAATATAATTATATATTACATATTA TTATATATAATATAATATATAATATAACATATTATATATTATTATATATA ATATAATATATAATATATTATTATATATAATATAATATATAATATATTAT ATATTATAATAATATATATGTTATGTAATATATAATATATTATATATAAT AATATATAATATAATATATAATATATTAAGATTATATATGATATGTAATA TATATAATTATATATCAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3938		chrX	TogoVar
FOXJ3_chr1_42171548_42340235	42222049	A A	AAGGAGAA others(395): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGCAGGA GAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGA AGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAGCAGGAGAAGAAGAAG CAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAA GAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGA AGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAG AAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAA GAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGA AGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	302	0.0033	402	c.528 others(419): Show c.528+5833_528+5834insGCTTCTTCTTCTTCTGCTTCTTCTTCTT CTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCT TCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTG CTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCT TCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTCCTGCTTCTTCTTC TCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTG CTTCTTCTTCTCCTGCTTCTTCTTCTCCTGCTTCTTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(395): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTGTATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATACA CTATATATGTATATATATACATATATAGTGTATATATAGTGTATATATAC ACTGTATATGTATATATAGTGTATATATACACTATATATACACTGTATAT GTATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGT ATATATACACTATACACTGTATATGTATATATAGTGTATATATACACTAT ACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGT ATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	150	0.0067	402	c.114 others(421): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATAGTGTATATATACACTATATATACATATACAGTGTATATATAGTGTA TATATACACTATATATACATATACAGTGTATATATACACTATATATACAC TATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACT ATATATATAGTGTATATATACTATATATATAGTGTATATACACTATATAT ATAGTGTATATATACTATATATAGTGTATATATACTATACATATATAGTG TATATATAGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(395): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCCCTCCTTCCCCCTCCTCCCCCT TCCCCCTCCCCACCTTCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTC CTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	254	0.0039	402	c.972 others(417): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCCCTCC TTCCCCCTCCTCCCCCTTCCCCCTCCCCACCTTCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCCTCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(395): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTCCCCCCCCCCTC CTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0099 a0007c0008t0001g0099	1	254	0.0039	402	c.972 others(417): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTCCCCCCCCCCTCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(395): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTT CCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCC CTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCT TCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCC TTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTT CCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTC CTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTC CTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01255.hp2 HG01361.hp1 others(18): Show HG00408.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01978.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG03669.hp2 HG03704.hp1 NA18747.hp1 NA18941.hp1 NA18944.hp1 NA18952.hp1 NA18959.hp2 NA18971.hp1 NA18986.hp2 NA19064.hp1 NA19064.hp2 NA19082.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0058 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0252 a0001c0001t0006g0027 a0001c0001t0006g0078 a0001c0001t0006g0101	21	274	0.0766	402	c.972 others(417): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTC TTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTT CCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCC CCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTC CCCCTTCCCCCCCCCTCCTTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPBP1_chr5_57169059_57269673	57249847	T T	TCCCCCTC others(395): Show TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCC CTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCC CTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTT CCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTC CCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCAC CTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCC CCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCT TTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTCCTTCCCCC TTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	285	0.0035	402	c.972 others(417): Show c.972+275_972+276insCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTC CCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCC CTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCT CCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCC TCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCC CCCCCTCCTTCCCCCTTCCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
ICA1_chr7_8108184_8267167	8152672	T T	TATCTCCT others(395): Show TATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCA CCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCC ACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAC CACCACTACCCCCAGCACTACCATCATCACCTCTTCCACCACTACCACCA TCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCACT ACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTC CACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCC CCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACC ACC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	250	0.0040	402	c.804 others(419): Show c.804+4443_804+4444insGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTG GTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGAT GATGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGG AGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATG GTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGATGAAGGAGAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152778	A A	ACCACCAC others(395): Show ACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTAC CACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCT TCATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACC ACCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCAC CACTACCCCCAGCACTACCACCATCACCTCCTCCACCACTACCACCATCT CCTCCACCACCACCACCACCACCACAATTATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAAC CACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCTCCT CCG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	271	0.0037	402	c.804 others(419): Show c.804+4337_804+4338insCGGAGGAGGTGATGGTGATAGTGGTGGG GGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGG AGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATT GTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAGGAGGT GATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFT140_chr16_1505427_1617072	1599430	A A	AGCCCCCC others(395): Show AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCAC CCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCGCCCC GTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0002 a0001c0002t0005g0001 a0001c0002t0005g0002	2	332	0.0060	402	c.369 others(419): Show c.369+2939_369+2940insCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IL3RA_chrX_1331785_1387689	1360946	C C	CCTCTCTG others(395): Show CCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTC TCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTC TCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTC TCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTC CCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCC TTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCC CCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	67	0.0149	402	c.759 others(419): Show c.759+2063_759+2064insCTGTCTCTCTCTCCCTTCCCCTCTCTGT CTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTC CCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCT GTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
KCNG2_chr18_79792938_79905100	79795224	T T	TGAGAGAC others(395): Show TGAGAGACACGGGACTGATTTACGGGATCACAGGGGAAGAAAAACACACA CGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACAG GGGGAGAAAAACACACTTGAGGCCTGCCCACGTCCGAGAGACACGGGACT GATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACGT CTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGAC CGATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACG TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0299 a0002c0002t0002g0122 a0001c0001t0001g0299 a0002c0002t0002g0122	2	276	0.0072	402	c.-29 others(413): Show c.-2905_-2904insGAGAGACACGGGACTGATTTACGGGATCACAGGG GAAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGA TTTACGGGATCACAGGGGGAGAAAAACACACTTGAGGCCTGCCCACGTCC GAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACTT GAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAGG GGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCG ATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGTC CGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACACA CGAGGCCTGCCCACGTCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2713		chr18	TogoVar
KCNIP4_chr4_20723606_21953772	21519592	G G	GTGCATAT others(395): Show GTGCATATACACATATGTGTGTATATGTATGTGCATATACACATATGTGT GTATGTGTATGTGTATATACACATATGTGTGTATGTGTATGTGTATATAC ACATGTGTGTATGTGTATGTGTATATACACATGTGTGTATGTGTATGTGT ATATACACATGTGTGTATGTGTATGTGTATATACACATGTGTGTATGTGT ATGTGTATATACACATGTGTGTATGTGTATGTGTATATACACATGTGTGT ATGTGTATGTGTATATACACATGTGTGTATGTGTATGTGTATATACACAT GTGTGTATGTGTATGTGTATATACACATGTGTGTGTGTGTGTATGTGTAT ATACACATGTGTGTGTGTGTGTATGTGTATATACACATGTGTGTGTGTGT GTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	79	0.0127	402	c.61+ others(421): Show c.61+428978_61+428979insTACACACACACACACATGTGTATATA CACATACACACACACACACATGTGTATATACACATACACACACACACACA TGTGTATATACACATACACATACACACATGTGTATATACACATACACATA CACACATGTGTATATACACATACACATACACACATGTGTATATACACATA CACATACACACATGTGTATATACACATACACATACACACATGTGTATATA CACATACACATACACACATGTGTATATACACATACACATACACACATGTG TATATACACATACACATACACACATGTGTATATACACATACACATACACA CATATGTGTATATACACATACACATACACACATATGTGTATATGCACATA CATATACACACATATGTGTATATGCA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TATCTCCA others(395): Show TATCTCCAAAAGGAGATATATATATATATATATATCTCCAAAAGGAGATA TATATATATATATATCTCCAAAAGGAGATATATATATATATATATATCTC CAAAAGGAGATATATATATATATATATATCTCCAAAAGGAGATATATATA TATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAG GAGATATATATATATATATATCTCCAAGAGGAGATATATATATATATCTC CAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATA TATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGAT ATATATATATATATATATATATATATATATATATATATATATCTCCAAGA GGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	178	0.0056	402	c.-67 others(421): Show c.-67-48555_-67-48554insCTCCAAAAGGAGATATATATATATAT ATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAAAGGAGAT ATATATATATATATATATCTCCAAAAGGAGATATATATATATATATATAT CTCCAAAAGGAGATATATATATATATATATATCTCCAAGAGGAGATATAT ATATATATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGA GGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAA GAGGAGATATATATATATATATATATATCTCCAAGAGGAGATATATATAT ATATATATCTCCAAGAGGGATATATATATATATATATATATATATATATA TATATATATATATCTCCAAGAGGGAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(395): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCATCA CCACCACCACCACCATCACCACCATCACCATCACCACCATCACCATCACC ACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCAC CACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCA CCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATCAC CAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0019 a0002c0001t0002g0019	1	196	0.0051	402	c.691 others(417): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGAT GGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(395): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCATCACCATCACCACCATTACCATC ACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCAC CACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCA CCATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ATTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATCAC CAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0056 a0002c0001t0056	a0002c0001t0056g0080 a0002c0001t0056g0080	1	196	0.0051	402	c.691 others(417): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGATGGTAATGGTGGTGATGGTGATGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGAT GGTGGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KLHDC4_chr16_87702812_87770986	87738668	T T	TCCACACA others(395): Show TCCACACACCAGCACCTCATCCATCCGCACACCAGCACCTCATCCACCCA CACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAG CACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCACCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCAC ACACCAGCACCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCATCT CATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATC CAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0259 a0006c0006t0001g0259	1	323	0.0031	402	c.507 others(419): Show c.507-8025_507-8024insGTGGATGAGGTGCTGGTGTGTGGGTGGA TGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGG TGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGCG GATGGATGAGGTGCTGGTGTGTGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar

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