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
WDR81_chr17_1719704_1743585	1739628	A A	AGCCTGAT others(353): Show AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC GGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp1 others(51): Show HG00099.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp1 HG01099.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02148.hp2 HG02155.hp1 HG02300.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp2 HG03017.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18956.hp1 NA18971.hp1 NA18981.hp2 NA18984.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19009.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19090.hp1 NA20905.hp1	a0003 a0012 a0017 others(1): Show a0003 a0012 a0017 a0021	a0003c0004 a0003c0005 a0003c0008 others(7): Show a0003c0004 a0003c0005 a0003c0008 a0003c0011 a0003c0029 a0003c0032 a0003c0044 a0012c0055 a0017c0045 a0021c0068	a0003c0004t0003 a0003c0004t0013 a0003c0005t0003 others(8): Show a0003c0004t0003 a0003c0004t0013 a0003c0005t0003 a0003c0008t0003 a0003c0011t0003 a0003c0029t0003 a0003c0032t0003 a0003c0044t0003 a0012c0055t0003 a0017c0045t0003 a0021c0068t0003	a0003c0004t0003g0002 a0003c0004t0003g0016 a0003c0004t0003g0031 others(19): Show a0003c0004t0003g0002 a0003c0004t0003g0016 a0003c0004t0003g0031 a0003c0004t0003g0061 a0003c0004t0003g0091 a0003c0004t0013g0002 a0003c0005t0003g0002 a0003c0005t0003g0021 a0003c0005t0003g0042 a0003c0005t0003g0065 a0003c0005t0003g0080 a0003c0008t0003g0002 a0003c0008t0003g0016 a0003c0011t0003g0002 a0003c0011t0003g0066 a0003c0011t0003g0067 a0003c0029t0003g0002 a0003c0032t0003g0002 a0003c0044t0003g0002 a0012c0055t0003g0002 a0017c0045t0003g0002 a0021c0068t0003g0068	54	431	0.1253	360	c.19 others(371): Show c.1943_*1944insGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCGGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1044		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(353): Show TATTATATATATATTATATATATATTATATATATATTATATATATATTAT ATATATATATAATATATATATATTATATATATATATAATATATATATTAT ATATATATAATATATATATTATATATATATAATATATATATTATATATAT ATAATATATATATATTATATATATATATAATATATATATATTATATATAT ATATAATATATATATTATATATATAATATATATATTATATATATATATTA TATATATATTATATAATATAATATTATTATATATATAATATATAATAATA TATAATATATATAATATATATATTATATATATATATTATATATATATATA TAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0009 a0003c0003t0003g0009	1	330	0.0030	360	c.37 others(371): Show c.3793_*3794insCTCTCTCTCTATATATATATATATAATATATATA TATAATATATATATTATATATATTATATATTATTATATATTATATATATA ATAATATTATATTATATAATATATATATAATATATATATATAATATATAT ATTATATATATAATATATATATTATATATATATATAATATATATATATTA TATATATATATAATATATATATATTATATATATATAATATATATATTATA TATATATAATATATATATTATATATATATAATATATATATTATATATATA TATAATATATATATATTATATATATATATAATATATATATAATATATATA TAATATATATATAATATATATATAAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
YBEY_chr21_46281342_46302751	46293156	A A	AACTCTAG others(353): Show AACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	404	0.0025	360	c.339 others(377): Show c.339+1704_339+1705insCCTCCCGTGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCG GACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAGACTCTAGATT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293740	G G	GCAAGTTA others(353): Show GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAA ACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	404	0.0025	360	c.339 others(377): Show c.339+2285_339+2286insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCA GCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294141	C C	CGGTTAGC others(353): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	404	0.0025	360	c.340 others(377): Show c.340-2008_340-2007insCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCC GTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTCCTCCCGTGGTTAGCCTGACC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(353): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp1 HG01261.hp2 others(11): Show HG01081.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01993.hp2 HG02559.hp1 HG03239.hp1 HG03710.hp1 HG03927.hp1 NA18962.hp1 NA18968.hp1 NA18977.hp2 NA18990.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0022 a0001c0001t0001g0129 a0001c0001t0001g0130 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0004g0223 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0069 a0001c0003t0001g0070	14	388	0.0361	360	c.-24 others(377): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZC3HAV1_chr7_139038515_139114720	139106851	T T	TAAAATAA others(353): Show TAAAATAACACATTGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0281 a0002c0025t0001g0281	1	314	0.0032	360	c.308 others(377): Show c.308+2172_308+2173insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTCCCAATGTGTTATTTT	ZC3HAV1	ENSG00000105939.14	transcript	ENST00000242351.10	protein_coding	1/12			chr7	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(353): Show TTATATATATTTTATATATAATATATATTATATATATTTTATATATATAA TATATATTATATATATTTTATATATATAATATATATTATATATATTTTAT ATATATTATATATATTATATATATTTTATATATATAATATATATTATATA TATTTTATATATAATATATATTATATATAAAATATATATAATATATATTA TATATATTTTATATATATAATATATATTATATATATTTTATATATAATAT ATATTATATATAAAATATATATAATATATATTATATATATTTTATATATA TAATATATATTATATATATTTTATATATAATATATATTATATATAAAATA TATATAATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp2 HG03540.hp1 HG03195.hp2 HG03471.hp2 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0066 a0003c0003t0004g0067 a0003c0003t0004g0071 a0003c0003t0004g0066 a0003c0003t0004g0067 a0003c0003t0004g0071	3	410	0.0073	360	c.125 others(375): Show c.125-645_125-644insTATATTATATATATTTTATATATAATATAT ATTATATATAAAATATATATAATATATATTATATATATAAAATATATATA ATATATATTATATATATTTTATATATAATATATATTATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT TTTATATATAATATATATTATATATAAAATATATATAATATATATTATAT ATATAAAATATATATAATATATATAATATATATAAAATATATATAATATA TATTATATATATAAAATATATATAATATATATTATATATATAAAATATAT ATAATATATATTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF16_chr8_144925358_144955880	144946606	T T	TGGGCCCG others(353): Show TGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGGCCTGTACC CTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTGTGGGGCTGT GTCCTGCTGTGGGCCCGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTGGG GCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTACCCTGCTG TGGCGGTGTGTCCTGCTGTGGGCCCGTGTCCTGCTGTGGGCCTGTGTCCT GCTGTGGGGCCTGTACCCTGCTGTGGGCCATACCCTTCTGTGGGCCTGTA CCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCCTGTGTCCTGCTGTGGGG CTGTGTCCTGG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	404	0.0025	360	c.-9- others(373): Show c.-9-392_-9-391insCCAGGACACAGCCCCACAGCAGGACACAGGCC CAACAGCAGGACACAGGCCCACAGCAGGGTACAGGCCCACAGAAGGGTAT GGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCCACAGCAGG ACACGGGCCCACAGCAGGACACACCGCCACAGCAGGGTACAGGCCCACAG AAGGGTATGGCCCACAGCAGGGTACAGGCCCCACAGCAGGACACAGGCCC CACAGCAGGACACGGGCCCACAGCAGGACACAGCCCCACAGCAGGGTACA GGCCCACAGAAGGGTATGGCCCACAGCAGGGTACAGGCCCCCACAGCAGG ACACAGGCCCACAGCAGGACACGGGCCC	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370753	T T	TACATCAT others(353): Show TACATCATATATGATATATACATCATATATCACACATATGATATATACAT CATATATCACACATATGATATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAC ATCATATATCACACATATGATATACATCATATATCACACATATGATATAT ATCATATATCACACATATGATATATATCATATATCACACATATGATATAT ATCATACATATCACATATATCATATATATCATACATATCACATATATGAT ATATATCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	350	0.0029	360	c.-37 others(371): Show c.-3719_-3718insACATCATATATGATATATACATCATATATCACAC ATATGATATATACATCATATATCACACATATGATATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATACATCATATATCACACATATGATATACATCATATATC ACACATATGATATATATCATATATCACACATATGATATATATCATATATC ACACATATGATATATATCATACATATCACATATATCATATATATCATACA TATCACATATATGATATATATCATAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3615		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319189	C C	CATATATA others(353): Show CATATATACATATACATACATATATACATATACATACATATATACATATA TACATATACATACATATATACATATATACATATACATACATATATACATA TATATACATATACATACATATATACATATATACATATACATACATATACA TACATATATACATATACATACATATACATACATATATATACATATATACA TATACATACATATATACATATATATACATATACATACATATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATACATATATATACATATACATACATATACATACATATATACATATACA TACATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01496.hp2 HG01952.hp1 HG01433.hp1 HG01496.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0032 a0001c0001t0001g0067	3	460	0.0065	360	c.-16 others(371): Show c.-1665_-1664insATATATACATATACATACATATATACATATACAT ACATATATACATATATACATATACATACATATATACATATATACATATAC ATACATATATACATATATATACATATACATACATATATACATATATACAT ATACATACATATACATACATATATACATATACATACATATACATACATAT ATATACATATATACATATACATACATATATACATATATATACATATACAT ACATATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATACATATATATACATATACATACATATACATAC ATATATACATATACATACATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1282		chr19	TogoVar
ZNF595_chr4_48321_93208	55392	A A	ACGAGGGA others(353): Show ACGAGGGAAGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	308	0.0033	360	c.3+1 others(373): Show c.3+1917_3+1918insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGAGGGAAGAATTTTT	ZNF595	ENSG00000272602.6	transcript	ENST00000610261.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF778_chr16_89212703_89242141	89224967	T T	TAAGATGC others(353): Show TAAGATGCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	434	0.0023	360	c.328 others(375): Show c.328+179_328+180insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGATGCATTCTGG	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(354): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02055.hp1 HG02083.hp2 others(9): Show HG00609.hp1 HG02055.hp1 HG02083.hp2 HG02129.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp1 NA20129.hp2 NA20805.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0009 a0012	a0001c0007 a0003c0009 a0003c0012 others(5): Show a0001c0007 a0003c0009 a0003c0012 a0004c0003 a0004c0031 a0007c0023 a0009c0027 a0012c0053	a0001c0007t0023 a0003c0009t0001 a0003c0009t0003 others(7): Show a0001c0007t0023 a0003c0009t0001 a0003c0009t0003 a0003c0012t0001 a0003c0012t0043 a0004c0003t0001 a0004c0031t0001 a0007c0023t0001 a0009c0027t0001 a0012c0053t0001	a0001c0007t0023g0215 a0003c0009t0001g0110 a0003c0009t0001g0199 others(9): Show a0001c0007t0023g0215 a0003c0009t0001g0110 a0003c0009t0001g0199 a0003c0009t0003g0052 a0003c0012t0001g0131 a0003c0012t0043g0118 a0004c0003t0001g0190 a0004c0031t0001g0070 a0007c0023t0001g0072 a0007c0023t0001g0206 a0009c0027t0001g0196 a0012c0053t0001g0177	12	228	0.0526	361	c.259 others(382): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCC ACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTC CCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(354): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGG GGGAGAGGGGAGGAGGGAGGGGGGAGGAGGGGAGGAGGAGGGGAGGGGGA GGAGGGAAGGGGGGAGGGGGAGGAGGGGAGAGGGGAGGGGGAGGGGAAGG GGAGGGGGAGGGGGGAAGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGG CGGGGAGGAGGGGACGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0164 a0001c0002t0002g0164	1	352	0.0028	361	c.51 others(372): Show c.5165_*5166insCCCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTC CTCCCTCCTCCCCGTCCCCTCCTCCCCGCCTCCCCTCCTCCCTCCTCCCC CTCCCCTCCCCTTCCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCT CCCCTCCTCCCCCTCCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTCCCC TCCTCCCCCCTCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCC CTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTC CTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(354): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAG GGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGG AGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGAGGAGGGGAGG GCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGG GAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	352	0.0028	361	c.51 others(372): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCT CCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCTCCTCCCC CTCCCCTTCCCCTCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCT CCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCT CCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCC TCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTC CTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGB_chr6_146593972_146820462	146643206	T T	TTCCAGTA others(354): Show TTCCAGTATCTTATTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTAT TTTTATTTTTTTTTTATTTTTTTTATTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCGAGAGTGCTGTGGCGCGATCTCCGCTCACTGCAA GCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp1 HG02809.hp1 HG03540.hp1	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0003 a0004c0020t0003	a0004c0020t0003g0216 a0004c0020t0003g0217 a0004c0020t0003g0216 a0004c0020t0003g0217	2	276	0.0073	361	c.238 others(378): Show c.238-1555_238-1554insTTTTTTTTTTTTTTTTTTTTTTTATTTT TTTTTTTATTTTTATTTTTTTTTTATTTTTTTTATTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCGAGAGTGCTGTGGCGCGATCTCCGC TCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTT TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCAGTATCTTA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(354): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGG AGGGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGGGGGAG GGGAGGGGGAGGGGGGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	301	0.0033	361	c.125 others(382): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCCCTCCC CCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCC CCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCC CCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCT TCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANGPT4_chr20_864900_921334	918704	T T	TAGAAGGT others(354): Show TAGAAGGTGGGGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAATAAAAAAATAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0005 a0002c0004t0004g0005	1	432	0.0023	361	c.-24 others(372): Show c.-2491_-2490insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTTTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTCGCCCA GGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTTTTTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGGCCCCACCTTCT	ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding		2371		chr20	TogoVar
ANKRD62_chr18_12088843_12134764	12094529	G G	GGGGTAGA others(354): Show GGGGTAGAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGTGAGGGTGGGT TGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGCGGGACTGTGGTGGG GGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTGGGGTTG GATGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACTGTGGTG GGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTGGGGT TGGATGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACTGTGG TGGGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGTGGAGTTGGGTGGG GTTGGATGGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp2 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0029 a0001c0002t0026g0029	2	392	0.0051	361	c.218 others(376): Show c.218+296_218+297insGTAGAGTTGGGTGAGGGACTGTGGTGGGGA GTGGAGTGAGGGTGGGTTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGG TGCGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTAGGAGGT GGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGATGG GGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTAGGAG GTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGAT GGGGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGACTGTATTAGG AGGTGGAGTTGGGTGGGGTTGGATGGGGTGG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
AP4E1_chr15_50903683_51010895	50930264	A A	ACCATGTT others(354): Show ACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACTG GCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGG CCGATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCA GAACAAATTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCT TGTTGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTC TACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGA GACGGGGTTTCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01515.hp2 HG00408.hp2 HG01515.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0142 a0002c0003t0003g0175 a0002c0003t0003g0142 a0002c0003t0003g0175	2	392	0.0051	361	c.703 others(376): Show c.703-519_703-518insAAACTCCTGACCTCAGATGATCCACTGGCT CGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCG ATTTTGGGGACTTTTAATGTTTAGTCTTGGCTGTGCTCTTCTACCCAGAA CAAATTTTTTTTTTTTTTTTTTTTTTTTTTGGGTGGAGCTTCGCTCTTGT TGCCCAGGCTGGAGTGCAATGGCGCGATCCCGGCTCACTGCAACCTCTAC CTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAT TACAGGCATGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGAC GGGGTTTCTCCATGTTGGTCAGGCTGGTCTC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	T T	TGTGTGTG others(354): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAG CGTGTGTGCCCGTGTCTGTTAAGCCTGTGTGTCCAAGGGAGCGTGTGTGC CCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGT TAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGT GTCCAAGGGAGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02622.hp2 others(6): Show HG02109.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 others(6): Show a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0018t0001g0230	9	246	0.0366	361	c.-81 others(380): Show c.-81-14532_-81-14531insGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCAC ACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCC TTGGACACACAGGCTTAACAGACACGGGCACACACGCTCCCTTGGACACA CAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAACA GACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCA CACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCC CTTGGACACACAGGCTAACAGACACGGGCACACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ASB5_chr4_176208673_176274222	176218621	A A	AATATATA others(354): Show AATATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAA TATATATATATTTGTATGATATATATATTTGTATGATATATAAATATATA TATTTGTATGATATATAAATATATATGTATGATATATAAATATATATTTG TATGATATATAAATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATAAATATATATATATTTGTATGATATATAAATATATATA TATTTGTATGATATATATATTTGTATGATATATAAATATATATATTTGTA TGATATATAAATATATATATTTGTATGATATATAAATATATATATTTGTA TGATATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0192 a0001c0005t0001g0192	1	410	0.0024	361	c.671 others(378): Show c.671-1613_671-1612insATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATT TATATATCATACAAATATATATATCATACAAATATATATATATTTATATA TCATACAAATATATATATATTTATATATCATACAAATATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATATCATACAAATATATATATTTATATATC ATACAAATATATATATCATACAAATATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
B4GALNT4_chr11_364499_387117	375001	G G	GAGGGAGG others(354): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	184	0.0054	361	c.784 others(376): Show c.784-453_784-452insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404221	G G	GGAGGGGG others(354): Show GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGTGGGGGGGATGGGGTC CTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTCCTGCCCTGAGGGGTCTG AGGGGGTACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGG GGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCC CTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGG GGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCT GAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18975.hp2 NA18612.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0008 a0001c0001t0027	a0001c0001t0008g0016 a0001c0001t0027g0041 a0001c0001t0008g0016 a0001c0001t0027g0041	2	322	0.0062	361	c.28 others(372): Show c.2874_*2875insTCCACACCCCTCAGGGCAGGACCCCGTACCCCCT CAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAG GACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCC ACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGG ACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTACCCCCTCAGA CCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCC CATCCCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCCACACACC CCTCAGGGCAGGACCCCATCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1223		chr19	TogoVar
C2CD4C_chr19_400445_414147	404221	G G	GGAGGGGG others(354): Show GGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGTGGGGGGGATGGGGTC CTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTCCTGCCCTGAGGGGTCTG AGGGGGTACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTG CCTTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGG GGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCC CTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGG GGGATGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCT GAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02074.hp2 HG02080.hp1 others(6): Show HG02027.hp2 HG02074.hp2 HG02080.hp1 HG03942.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19081.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0008 a0001c0001t0061 a0001c0001t0111 others(3): Show a0001c0001t0008 a0001c0001t0061 a0001c0001t0111 a0001c0002t0010 a0001c0002t0071 a0001c0012t0008	a0001c0001t0008g0016 a0001c0001t0061g0070 a0001c0001t0111g0091 others(4): Show a0001c0001t0008g0016 a0001c0001t0061g0070 a0001c0001t0111g0091 a0001c0002t0010g0008 a0001c0002t0010g0168 a0001c0002t0071g0132 a0001c0012t0008g0166	9	322	0.0280	361	c.28 others(372): Show c.2874_*2875insTCCACACCCCTCAGGGCAGGACCCCGTACCCCCT CAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAG GACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCC ACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGG ACCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTACCCCCTCAGA CCCCTCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCC CATCCCCCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCCACACACC CCTCAGGGCAGGACCCCATCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1223		chr19	TogoVar
C2CD4C_chr19_400445_414147	404613	C C	CGGGGTCC others(354): Show CGGGGTCCTGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGG GGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGAT GGGGTCCTGCCCTGAGGGGTGTGGGGGGGGATGGGGTCCTGCCCTGAGGG GTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTG TGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGT CCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGGTCCTGCCCTGAGGGGTC TGAGGGGGTACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0025 a0001c0002t0012g0025	1	322	0.0031	361	c.24 others(372): Show c.2482_*2483insCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCC ATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCC CTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCA TCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCT CAAGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCATCC CCCCCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAG GGCAGGACCCCGTTCCCCCCTCCACACCCCTCAGGGCAGGACCCCGTACC CCCTCAGACCCCTCAGGGCAGGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		831		chr19	TogoVar
C2CD4C_chr19_400445_414147	404677	A A	ATGGGGTC others(354): Show ATGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGATGGGGTCCTGCCCTGA GGGGTCTGAGGGGGTACGGGGTCCTGCCTTGAGGGGTGTGGGGGGGAACG GGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGG GTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGG GGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGG TCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGG TCCTGTCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTG TGGAGGGGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0040 a0001c0001t0033g0040	1	322	0.0031	361	c.24 others(372): Show c.2418_*2419insATCCCCCCTCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCTCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACCCC TCAGGGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCATC CCCCCTCCACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTC AGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACCCCATCC CCCCTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAA GGCAGGACCCCGTACCCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCC CCCCACACCCCTCAGGGCAGGACCCCA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		767		chr19	TogoVar
C2CD4C_chr19_400445_414147	404930	G G	GGAGGGGG others(354): Show GGAGGGGGGACGGGGTCCTGTCCTGAGGGGTGTGGGGGGGACGGGGTCCT GCCCTGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGT CCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGAG GGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGG GACGGGGTCCTGTCCTGAGGGGTGTGGAGGGGGGAACGGGGTCCTGCCCT GAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	322	0.0031	361	c.21 others(372): Show c.2165_*2166insTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCC TCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCCACACCCCTCAGGGC AGGACCCCATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGA CCCCGTTCCCCCCTCCACACCCCTCAGGACAGGACCCCGTCCCCCCTCCA CACCCCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGA CCCCATCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACC CCTCAGGACAGGACCCCGTCCCCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		514		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(354): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	166	0.0060	361	c.198 others(380): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181980	C C	CAGACACA others(354): Show CAGACACAACCACACCACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACACACACACTCACATACAGACACAACCACACCAC ACACACACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACATACACACTCACAT ACAGACACAACCACACCACACACACACACACACTCACATACAGACACAAC CACACCACACACACACACACACTCACATACAGACACAACCACACCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACACAT ACACACTCACAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	460	0.0022	361	c.193 others(378): Show c.1938+679_1938+680insACACACACACTCACATACAGACACAACC ACACCACACACACACACACACACACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACATACACACTCAC ATACAGACACAACCACACCACACACACACACACACTCACATACAGACACA ACCACACCACACACACACACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ATACACACTCACATAGACACAACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC63_chr12_110841987_110912535	110905919	A A	ATATAATA others(354): Show ATATAATATATATTATATATAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATAATATATATTATA TAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTAT ATTATATAATATATATTTTATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19065.hp2 HG04184.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0058 a0001c0001t0001g0008 a0001c0001t0001g0058	2	288	0.0069	361	c.154 others(380): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATATAATATATATTTTATAAAATATAT ATTATATTATATAATATATATTTTATAAAATATATATTATATTATATATA ATATATATTATATAAAATATATATTATATTATATAATATATATTATATAA AATATATATTATATTATTATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905955	T T	TATATAAT others(354): Show TATATAATATATATTATATAAAATATATATTATATTATATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTATATAAAATATATATTATATTATA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTTT ATAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTA TATTATATAATATATATTATATAAAATATATATTATATTATATATAATAT ATATTATATAAAATATATATTATATTATATAATATATATTATATAAAATA TATATTATATTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	288	0.0035	361	c.154 others(380): Show c.1546+1164_1546+1165insATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTTTATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CCDC83_chr11_85850383_85925013	85924314	T T	TAAGAATA others(354): Show TAAGAATATTATTATATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGTGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	334	0.0030	361	c.48 others(372): Show c.4804_*4805insAAGAATATTATTATATGGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGT GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAA	CCDC83	ENSG00000150676.13	transcript	ENST00000342404.8	protein_coding		4302		chr11	TogoVar
CDH4_chr20_61247261_61945617	61475505	T T	TCTCCCTC others(354): Show TCTCCCTCCCCCCTCTCTCCATCTCTGCCTTCCCCCCTCCCTCCCCACCC TCCACCTCTCTCTCTCTTTCCATCCCTGCCCTCCCTCTCTCCCTCCCTGT CCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCT CGCCCTCTCTCTCCCTCTCTCGCCCTCTCTCTCCCTCCCCCTTCCTTCTC TCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCTGCCCCTCCCTCCCTCTCT CTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCCCTCCCTCCCTCTCTGTCT CCCTGTCCTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0086 a0001c0003t0054g0086	1	106	0.0094	361	c.169 others(382): Show c.169+220575_169+220576insCCCCCTCTCTCCATCTCTGCCTTC CCCCCTCCCTCCCCACCCTCCACCTCTCTCTCTCTTTCCATCCCTGCCCT CCCTCTCTCCCTCCCTGTCCCTCCCTCCCTCCCTCTCTCTCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCGCCCTCTCTCG CCCTCTCTCGCCCTCTCTCGCCCTCTCTCTCCCTCTCTCGCCCTCTCTCT CCCTCCCCCTTCCTTCTCTCTCTCTGTCCCTTCCGTCCCTCTCTCTCCCT GCCCCTCCCTCCCTCTCTCTCCCTGCCCTTCCCTCCCTCTCTCCCTGCCC CTCCCTCCCTCTCTGTCTCCCTGTCCTTCCCTCCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(354): Show ATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAGAT ACATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCT ATATAGATATATAGATACATCTATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	440	0.0023	361	c.12 others(372): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATAT AGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATTA TATATCTATATAGATTATATATCTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CEP170B_chr14_104860268_104901747	104884561	C C	CGGCGAGT others(354): Show CGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGCGATGCCGGG GGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGG GGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCG GGGGTGGCGAGTGAGAGCCCTCGTGGGGAACCGGGGGTGGAGGCGATGCC GGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGTGATG CCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGCGA TGCCGGGGGTGGCGAGTGAGAGCCCTCGTGGGGAACGGGGGGGTGGAGGC GATGCCGGGGGT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0213 a0001c0022t0004g0213	1	328	0.0031	361	c.177 others(378): Show c.1770+204_1770+205insCGATGCCGGGGGTGGCGAGTGAGAGCCC TCGTGGGGAACGGGGGGGTGGAGGTGATGCCGGGGGTGGCGAGTGAGAGC CCTCGTGGGGAACGGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGAGA GCCCTCGTGGGGAACGGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGTGA GAGCCCTCGTGGGGAACGGGGGGGTGGAGGCGATGCCGGGGGTGGCGAGT GAGAGCCCTCGTGGGGAACGGGGGGTGGAGGCGATGCCGGGGGTGGCGAG TGAGAGCCCTCGTGGGGAACGGGGGGTGGAGGTGATGCCGGGGGTGGCGA GTGAGAGCCCTCGTGGGGAACCGGGGGTGGAGG	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr14	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(354): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	364	0.0028	361	c.-57 others(370): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
CMAS_chr12_22041218_22070668	22045450	C C	CAAGACTC others(354): Show CAAGACTCTCTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACGAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAATCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	450	0.0022	361	c.-85 others(370): Show c.-854_-853insAAGACTCTCTGGAGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACGAAAAA TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAATCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	CMAS	ENSG00000111726.13	transcript	ENST00000229329.7	protein_coding		767		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(354): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	344	0.0029	361	c.85- others(378): Show c.85-12935_85-12934insTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT TCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(354): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGG GGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	344	0.0029	361	c.85- others(378): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(354): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0313 a0001c0006t0001g0313	1	412	0.0024	361	c.630 others(376): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(354): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGA GGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCT GGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGG GCTCCGGCGGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18979.hp2 HG02293.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0291 a0001c0003t0001g0314 a0001c0003t0001g0291 a0001c0003t0001g0314	2	412	0.0049	361	c.630 others(376): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCT CCGGCGGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CROCC2_chr2_240901336_240998311	240924307	C C	CCCCCACA others(354): Show CCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTG ACCCGGCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCCCCACACT GACCCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCA CACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCC ACACTAATCCGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0200 a0010c0010t0001g0200	1	350	0.0029	361	c.489 others(378): Show c.489-1413_489-1412insACACTAATCCGGCCCCCACACTAACCCG GCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTA ACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCCGGCCCCCACACT GACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCCCACA CTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCC ACACTAACCCGGCCCCCACACTAATCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251005	A A	AACACCCC others(354): Show AACACCCCCACACACCCCCCACACCACACATCCCCCACACCACACATCCC TCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCACACCCCCCACA TCCCCCCACATCCCCCACACCCCCACACCCCCCACACCCCCCACACATCC CCCACACCCCCACACATCCCCACACCCCCCACATCCCCCACACCCCCCAC ACATCCCCCACACCCCCACACATCCCCACACCCCCCACATCCCCCACACC CCCCACACATCCCCCACACCCCCACATCCCCCACACCCCCACACATCCCC CACACCCCCACACATCCCCCACACCCCCCACACCCCCCACACATCCCCCA CACCCCCCACAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	116	0.0086	361	c.207 others(380): Show c.2073+1321_2073+1322insACACCCCCACACACCCCCCACACCAC ACATCCCCCACACCACACATCCCTCACACCCCCAAATCCCCCACACCCCC CACATCTCCCCACACCCCCCACATCCCCCCACATCCCCCACACCCCCACA CCCCCCACACCCCCCACACATCCCCCACACCCCCACACATCCCCACACCC CCCACATCCCCCACACCCCCCACACATCCCCCACACCCCCACACATCCCC ACACCCCCCACATCCCCCACACCCCCCACACATCCCCCACACCCCCACAT CCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCC CCACACCCCCCACACATCCCCCACACCCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(354): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	367	0.0027	361	c.-42 others(372): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(354): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	367	0.0027	361	c.-42 others(372): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGAGGGAG others(354): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGG GGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	367	0.0027	361	c.-42 others(372): Show c.-4255_-4254insGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(354): Show CGGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	367	0.0027	361	c.-42 others(372): Show c.-4238_-4237insGGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGG TGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIP2C_chr10_269201_694668	478151	G G	GAAGAAGG others(354): Show GAAGAAGGGAGGGGGAGAAGGGAGGGAGAAGAAGGGAGGGGGAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAGAAGGGGGAGGGAGGGAGGGGAGAGAGG GAGGGGAGAGGAGGGAGGTGAGAAGAAGGGTGGGGTGGGGAGGGGAGGGG AGGAGAAGGGTGGGGTGGGGGTGGGTGGGGTGGGAGGGTTGTGGTTGGGA GGGGAGGGGTGGGGTGGGGTGATGAAGGGAGGGGAGGGGAGGGGAGAAGA TGGGGGGGTGGGGTGGGGGGGGGGAGAAGGGTGGGGGGGTGGGGTGGGGG TTGAGGGGGGGTGGGGTGGGGGGGGTGGTGGGTGGGGGAAGTAGGGAGGG GAGAGAAGGTGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	361	c.158 others(378): Show c.158-5603_158-5602insTCACCTTCTCTCCCCTCCCTACTTCCCC CACCCACCACCCCCCCCACCCCACCCCCCCTCAACCCCCACCCCACCCCC CCACCCTTCTCCCCCCCCCCACCCCACCCCCCCATCTTCTCCCCTCCCCT CCCCTCCCTTCATCACCCCACCCCACCCCTCCCCTCCCAACCACAACCCT CCCACCCCACCCACCCCCACCCCACCCTTCTCCTCCCCTCCCCTCCCCAC CCCACCCTTCTTCTCACCTCCCTCCTCTCCCCTCCCTCTCTCCCCTCCCT CCCTCCCCCTTCTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTCCCCCTCC CTTCTTCTCCCTCCCTTCTCCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar

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