Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACHD1_chr1_64465129_64698053	64492378	T T	TCCCCCTA others(344): Show TCCCCCTATTGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02895.hp2 HG02897.hp2 HG02109.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0073 a0001c0001t0001g0157 a0001c0001t0003g0155 a0001c0001t0001g0073 a0001c0001t0001g0157 a0001c0001t0003g0155	3	166	0.0181	351	c.198 others(370): Show c.198+21453_198+21454insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTTTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCCCCCTATTGTTTTCTT	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(344): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATG TG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0204 a0002c0043t0001g0204	1	338	0.0030	351	c.300 others(368): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCT others(344): Show TTCCTTCTCTCTCTCTTTCTTTCACCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCG CCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTC CC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0161 a0001c0001t0038g0161	1	236	0.0042	351	c.482 others(368): Show c.482+1348_482+1349insTTCTCTCTCTCTTTCTTTCACCCTCCCT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCCTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CALHM5_chr6_116506639_116529788	116522977	T T	TAAAATGT others(344): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0002 a0001c0001t0129g0002	1	402	0.0025	351	c.70 others(362): Show c.7004_*7005insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATGTGGATTGCTG	CALHM5	ENSG00000178033.6	transcript	ENST00000368599.4	protein_coding	2/2	7005	INFO_REALIGN_3_PRIME	chr6	TogoVar
CALN1_chr7_71774491_72417338	71992047	T T	TAGAAATT others(344): Show TAGAAATTGTAAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	142	0.0070	351	c.501 others(370): Show c.501+31609_501+31610insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCATTTACAATTTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44181441	C C	CACCACAC others(344): Show CACCACACTCACACACACACACACTCACATACACAACCACACCACACACA CACACACACACACTCACATACAGACACAACCACACCACACACACACACAC ACTCACATACACAACCACACTCACACACACACACACACACAGACACAACC ACACCACACACACACACACTCACATACAGACACAACCACACCACACTCAC TCACACACATACACACTCACATACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACATACACACTCACATACAGACA CA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	460	0.0022	351	c.193 others(368): Show c.1938+144_1938+145insTCACATACACAACCACACCACACACACA CACACACACACTCACATACAGACACAACCACACCACACACACACACACAC TCACATACACAACCACACTCACACACACACACACACACAGACACAACCAC ACCACACACACACACACTCACATACAGACACAACCACACCACACTCACTC ACACACATACACACTCACATACACAACCACACCACACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACACACTCACAT ACAGACACAACCACACCACACTCACACATACACACTCACATACAGACACA ACCACACTCACACACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACTC others(344): Show CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACATACAGACACAACCACACCACACACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACATAC AGACACAACCACACCACACTCACACACACACACACAGACACAACCACACC ACACTCACACACACACACACTCACATACAGACACAACCACACCACACACA CACACACACAGACACAACCACACCACACACACACCCAACCACACCACACT CA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG06807.hp1 HG02886.hp2 HG06807.hp1	a0005 a0018 a0005 a0018	a0005c0006 a0018c0021 a0005c0006 a0018c0021	a0005c0006t0002 a0018c0021t0002 a0005c0006t0002 a0018c0021t0002	a0005c0006t0002g0224 a0018c0021t0002g0372 a0005c0006t0002g0224 a0018c0021t0002g0372	2	460	0.0044	351	c.193 others(368): Show c.1938+509_1938+510insTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACATACAGACACAACCACACC ACACACACACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACACACATACAGACACAACCACACCACACTCACACACACACACA CAGACACAACCACACCACACTCACACACACACACACTCACATACAGACAC AACCACACCACACACACACACACACAGACACAACCACACCACACACACAC CCAACCACACCACACTCACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(344): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCTCCCCCACGTCGCCTCCCC CA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0293 a0001c0002t0002g0293	1	410	0.0024	351	c.-22 others(368): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC TCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBX2_chr17_79773148_79792983	79776432	T T	TCCAGGGC others(344): Show TCCAGGGCAAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACTGTGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTTTTGTATTTTTTTTTTTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0119 a0001c0002t0009g0119	1	466	0.0022	351	c.-18 others(362): Show c.-1804_-1803insCCAGGGCAAAATCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCG GACTGTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTTTTTTTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGG	CBX2	ENSG00000173894.11	transcript	ENST00000310942.9	protein_coding		1715		chr17	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(344): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(146): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0004t0007 a0001c0004t0014 a0002c0002t0004 a0003c0003t0006 a0005c0006t0002	a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0070 others(33): Show a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0004g0011 a0001c0001t0004g0044 a0001c0001t0013g0052 a0001c0004t0007g0018 a0001c0004t0007g0064 a0001c0004t0007g0065 a0001c0004t0014g0066 a0002c0002t0004g0039 a0003c0003t0006g0013 a0003c0003t0006g0067 a0003c0003t0006g0068 a0003c0003t0006g0069 a0005c0006t0002g0050	149	408	0.3652	351	c.178 others(366): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CCDC163_chr1_45488866_45505073	45497762	T T	TGTCAGCC others(344): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGG GG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	408	0.0025	351	c.178 others(366): Show c.178-380_178-379insCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCTGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGACTGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGAC	CCDC163	ENSG00000280670.3	transcript	ENST00000629482.3	protein_coding	2/4			chr1	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(344): Show CCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTTCTTCCTTTCTTC CTTTCTTTTCCTTCTTTCCTTCTTTCTCTCTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0247 a0002c0003t0004g0247	1	424	0.0024	351	c.774 others(366): Show c.774+867_774+868insCCTTCCTTCCTTCCTTTCCTTCCTTCCTTC CTTTCTTCCTTTCTTCCTTTCTTTTCCTTCTTTCCTTCTTTCTCTCTTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCT CTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDH6_chr5_31188686_31334146	31233242	T T	TAAAAGCT others(344): Show TAAAAGCTAAAAGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTTGAGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACGCTGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0330 a0001c0001t0068g0330	1	338	0.0030	351	c.-12 others(372): Show c.-128-34090_-128-34089insGGCCGGGCGTGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTCCCAGCTACTT GAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACG CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGCTAAAAGAG	CDH6	ENSG00000113361.13	transcript	ENST00000265071.3	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(344): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT AT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	388	0.0026	351	c.487 others(368): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(344): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATAGAATATATA TATATAGAATATATATATATAGAATATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT AT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	388	0.0026	351	c.487 others(368): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATAGAATATATATATATAGAATATATATATATAGAATATAT ATATATAGAATATATATATATAGAATATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPU_chr4_184689085_184739096	184730507	T T	TAAAGAAA others(344): Show TAAAGAAATGCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19240.hp2 NA21309.hp2 HG01167.hp1 NA19240.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0271 a0003c0003t0003g0272 a0003c0003t0003g0273 a0003c0003t0003g0271 a0003c0003t0003g0272 a0003c0003t0003g0273	3	358	0.0084	351	c.96+ others(364): Show c.96+412_96+413insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCGCATGTGCATTTCTTT	CENPU	ENSG00000151725.12	transcript	ENST00000281453.10	protein_coding	2/12			chr4	TogoVar
CFAP44_chr3_113281930_113446493	113328297	T T	TCAATCTC others(344): Show TCAATCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0066 a0002c0002t0005g0066	1	348	0.0029	351	c.411 others(368): Show c.4117-479_4117-478insGCCGGGCGCGGTAGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAAAGAGATTG	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP44_chr3_113281930_113446493	113328300	A A	ATCTCTTT others(344): Show ATCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCGCCCGGCC AT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0057 a0002c0002t0032g0057	1	348	0.0029	351	c.411 others(368): Show c.4117-482_4117-481insATGGCCGGGCGCGGTAGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGAAAGAGA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(344): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18939.hp2 HG02976.hp1 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0223 a0001c0001t0004g0008 a0001c0001t0001g0223 a0001c0001t0004g0008	2	400	0.0050	351	c.172 others(368): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC ACTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(344): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	400	0.0025	351	c.172 others(368): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198654	T T	TGTACGGT others(344): Show TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGGGTACGGTCCC CACTGAGGCGTGACAGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGT GACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGGCGCGTC CCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTAC GGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCG AGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCTGAGGCGTGACGG CGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGT GC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	400	0.0025	351	c.172 others(368): Show c.172-1671_172-1670insGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGGGTACGGTCCCCACTGAGGCGTGACAGCGCGTCCCCGTGG GTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCC GCTGAGGCGTGACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTG ACGGCGCGTCCCCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCC CCGTGGGTACGGTCCCCGCCGAGGCGTGACGGCGCGTCCCCGTGGGTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3			chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198673	C C	CGTGACGG others(344): Show CGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGA CGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGG TCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAG GG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	400	0.0025	351	c.172 others(368): Show c.172-1647_172-1646insGGCGCGTCCCCGTGCTTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC GTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGT CCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGG GGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCT TACGGTCCCCGCTGAGGGGTGAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198673	C C	CGTGACGG others(344): Show CGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGG TCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAG GG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	400	0.0025	351	c.172 others(368): Show c.172-1647_172-1646insGGCGCGTCCCCGTGCTTACGGTCCCCGC TGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGAC GGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCC GTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGT CCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGG CGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCT TACGGTCCCCGCTGAGGGGTGAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114198811	G G	GTACGGTC others(344): Show GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACG GTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTG CT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	400	0.0025	351	c.172 others(368): Show c.172-1497_172-1496insGGTGACGGCGCGTCCCCGTGCTTACGGT CCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGG CGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCT TACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCTTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCTTACGGTCCCCGCTGAGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CFAP97D2_chr13_114174257_114228085	114199804	C C	CGTGACGG others(344): Show CGTGACGGGGCGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGCGC GTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTG TACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGA CGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCC CGTGCGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGCGTACGG TCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAG GG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03471.hp2 HG03654.hp2 others(2): Show HG00733.hp2 HG03471.hp2 HG03654.hp2 HG03688.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0001t0002g0322	5	400	0.0125	351	c.172 others(366): Show c.172-514_172-513insGGCGTCCCCGTGTGTACGGTCCCCGCTGAG GCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGCG CGTCCCCGTGTGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCCCCGTGC GTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACGGTCCCC GCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGCGTGACGGGGCGTCC CCGTGCGTACGGTCCCCGCTGAGGCGTGACGGCGCGTCCCCGTGCGTACG GTCCCCGCTGAGGGGTGACGG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CGNL1_chr15_57371505_57555717	57480226	T T	TGAAAATA others(344): Show TGAAAATATGCATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0156 a0004c0004t0002g0156	1	294	0.0034	351	c.240 others(372): Show c.2403+18348_2403+18349insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAATATGCATTG	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHFR_chr12_132827356_132892605	132869163	C C	CCGAGGGG others(344): Show CCGAGGGGAAGGGGACATGCGGAGTGACTGCTGCTGGGGCTGAGGGGAAG GGGACATGCGGAGTGACTGCTGCTGGGGTCGAGGGGAAGGGGACATGGGG AGTGACTGCTGGTGGGGCCGAGGGGAAGGGGACATGGGGAGTGACTGCTG GTGGGGCCGAGGGGAAGGGGACATGGGGAGTGACTGCTGGTGGGGCCGAG GGGAAGGGGACATGGGGAGTGACTGCTGGTGGGGCCGAGGGGAAGGGGAC ATGGGGAGTGATTGCTGGTGGGGCCGAGGGGAAGGGGACATGCGGAGTGA CTGCTGCTGGGGTCGAGGGGAAGGGGACATGGGGAGTGACTGCTGATGGG GT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp1 HG03195.hp1 HG03486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0054 a0005c0009t0055 a0005c0009t0054 a0005c0009t0055	a0005c0009t0054g0118 a0005c0009t0055g0106 a0005c0009t0054g0118 a0005c0009t0055g0106	2	378	0.0053	351	c.583 others(366): Show c.583+455_583+456insACCCCATCAGCAGTCACTCCCCATGTCCCC TTCCCCTCGACCCCAGCAGCAGTCACTCCGCATGTCCCCTTCCCCTCGGC CCCACCAGCAATCACTCCCCATGTCCCCTTCCCCTCGGCCCCACCAGCAG TCACTCCCCATGTCCCCTTCCCCTCGGCCCCACCAGCAGTCACTCCCCAT GTCCCCTTCCCCTCGGCCCCACCAGCAGTCACTCCCCATGTCCCCTTCCC CTCGGCCCCACCAGCAGTCACTCCCCATGTCCCCTTCCCCTCGACCCCAG CAGCAGTCACTCCGCATGTCCCCTTCCCCTCAGCCCCAGCAGCAGTCACT CCGCATGTCCCCTTCCCCTCG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	6/17			chr12	TogoVar
CHSY1_chr15_101170727_101257048	101223530	T T	TACTTCCA others(344): Show TACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCACAC TGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCACACTGGGACTCAGG CCTCGTCTACTACAGAGGACTTCCACACTGGGACTCAGGCCTCGTCTACT ACAGAGGACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGAGGACTT CCACACTGGGACTCAGGCCTCGTCTACTACAGAGGACTTCCACACTGGGA CTCAGGCCTCGTCTACTACAGAGGACTTCCACACTGGGACTCAGGCCTCG TCTACTACAGAGGACTTCCACACTGGGACTCAGGCCTCGTCTACTACAGA GG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18990.hp2 NA18942.hp2 NA18990.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0032 a0003c0017t0032	a0003c0017t0032g0382 a0003c0017t0032g0392 a0003c0017t0032g0382 a0003c0017t0032g0392	2	422	0.0047	351	c.816 others(370): Show c.816+11551_816+11552insCCTCTGTAGTAGACGAGGCCTGAGTC CCAGTGTGGAAGTCCTCTGTAGTAGACGAGGCCTGAGTCCCAGTGTGGAA GTCCTCTGTAGTAGACGAGGCCTGAGTCCCAGTGTGGAAGTCCTCTGTAG TAGACGAGGCCTGAGTCCCAGTGTGGAAGTCCTCTGTAGTAGACGAGGCC TGAGTCCCAGTGTGGAAGTCCTCTGTAGTAGACGAGGCCTGAGTCCCAGT GTGGAAGTCCTCTGTAGTAGACGAGGCCTGAGTCCCAGTGTGGAAGTCCT CTGTAGTAGACGAGGCCTGAGTCCCAGTGTGGAAGTCCTCTGTAGTAGAC GAGGCCTGAGTCCCAGTGTGGAAGT	CHSY1	ENSG00000131873.7	transcript	ENST00000254190.4	protein_coding	2/2			chr15	TogoVar
CLASRP_chr19_45034045_45075956	45038561	T T	TAAAAAAT others(344): Show TAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02523.hp2 NA18972.hp1 others(1): Show HG02080.hp2 HG02523.hp2 NA18972.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0130	4	364	0.0110	351	c.-57 others(360): Show c.-577_-576insAAAAAATGAGACCGGGTTGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CLASRP	ENSG00000104859.15	transcript	ENST00000221455.8	protein_coding		483		chr19	TogoVar
COL9A1_chr6_70211126_70308084	70249172	T T	TCCACTGA others(344): Show TCCACTGAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01074.hp2 HG01069.hp2 HG01074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0041 a0003c0003t0002g0127 a0003c0003t0001g0041 a0003c0003t0002g0127	2	362	0.0055	351	c.187 others(370): Show c.1872+2947_1872+2948insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAATCTTCAGTGG	COL9A1	ENSG00000112280.18	transcript	ENST00000357250.11	protein_coding	28/37			chr6	TogoVar
CPSF1_chr8_144388231_144414335	144398288	C C	CCTCCCCA others(344): Show CCTCCCCACCACCGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGC CCAGGGCCCAACCACCCCCCCACCTACCTCCTTCCAGCAGGCGGATGCCC AGGGCCCAACCACCTCCCCCCCACCGTCCCCACCCACCTACCTCCTTCCA GCAGGCGGATGCCCAGGGCCCAACCACCTCCCCACCACCGTCCCCACCCA CCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCACCCCCCCACC TACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAACCACCTCCCCCCCAC CGTCCCCACCCACCTACCTCCTTCCAGCAGGCGGATGCCCAGGGCCCAAC CA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	350	0.0029	351	c.189 others(366): Show c.1894+13_1894+14insTGGTTGGGCCCTGGGCATCCGCCTGCTGGA AGGAGGTAGGTGGGTGGGGACGGTGGGGGGGAGGTGGTTGGGCCCTGGGC ATCCGCCTGCTGGAAGGAGGTAGGTGGGGGGGTGGTTGGGCCCTGGGCAT CCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGTGGTGGGGAGGTGGT TGGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTGGGTGGGGACGGT GGGGGGGAGGTGGTTGGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGG TGGGGGGGTGGTTGGGCCCTGGGCATCCGCCTGCTGGAAGGAGGTAGGTG GGTGGGGACGGTGGTGGGGAG	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	19/37			chr8	TogoVar
CT47C1_chrX_119067993_119081765	119069421	T T	TAAAATAC others(344): Show TAAAATACAGACTTGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	310	0.0032	351	c.-38 others(362): Show c.-3805_-3804insAAAATACAGACTTGGCCGGGCGCGTTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding		3571		chrX	TogoVar
CTNNA2_chr2_79508051_80653780	80238001	T T	TGACGTGT others(344): Show TGACGTGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0060 a0002c0006t0001g0060	1	68	0.0147	351	c.105 others(374): Show c.1057-155198_1057-155197insTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGACGTGTCTCTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CUL4A_chr13_113204613_113272108	113232050	C C	CGCCCACC others(344): Show CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTAC CCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0023 a0002c0013t0001g0023	1	396	0.0025	351	c.513 others(368): Show c.513-1052_513-1051insCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(344): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18974.hp1 HG02083.hp2 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0090 a0002c0002t0001g0024 a0002c0002t0001g0090	2	396	0.0051	351	c.513 others(366): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(344): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	320	0.0031	351	c.546 others(368): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(344): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0073 a0001c0001t0007g0073	1	288	0.0035	351	c.-7- others(366): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(344): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGCGGGGGTCAGCCCCCCCACCCGGCCAGCC GC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	288	0.0035	351	c.-7- others(366): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGGTCAGC CCCCCCACCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(344): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCACCCGGCCAGCC GC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(65): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01168.hp2 HG01175.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02559.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18949.hp2 NA18955.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA18992.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp1 NA19077.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0021 a0002c0003t0003	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 others(62): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0071 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0238 a0001c0001t0003g0246 a0001c0001t0003g0263 a0001c0001t0008g0205 a0001c0001t0008g0207 a0001c0001t0008g0220 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0226 a0001c0001t0008g0228 a0001c0001t0008g0235 a0001c0001t0008g0237 a0001c0001t0008g0265 a0001c0001t0009g0004 a0001c0001t0009g0010 a0001c0001t0009g0236 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0258 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0016g0252 a0001c0001t0016g0253 a0001c0001t0021g0257 a0002c0003t0003g0261	68	288	0.2361	351	c.-7- others(366): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCACCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(344): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0002t0006 a0001c0002t0024 a0002c0003t0003 a0002c0003t0008 a0002c0003t0020	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0058 others(122): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0192 a0001c0001t0003g0053 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0189 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0004g0110 a0001c0001t0004g0132 a0001c0001t0004g0142 a0001c0001t0004g0145 a0001c0001t0005g0165 a0001c0001t0006g0199 a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0007g0072 a0001c0001t0007g0074 a0001c0001t0007g0075 a0001c0001t0007g0076 a0001c0001t0007g0079 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0008g0187 a0001c0001t0010g0100 a0001c0001t0010g0201 a0001c0001t0010g0202 a0001c0001t0011g0188 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0012g0129 a0001c0001t0013g0054 a0001c0001t0013g0159 a0001c0001t0014g0009 a0001c0001t0014g0093 a0001c0001t0015g0185 a0001c0001t0015g0186 a0001c0001t0017g0081 a0001c0001t0017g0200 a0001c0001t0018g0089 a0001c0001t0022g0171 a0001c0001t0023g0009 a0001c0001t0025g0063 a0001c0001t0026g0156 a0001c0001t0027g0007 a0001c0001t0028g0001 a0001c0002t0006g0082 a0001c0002t0006g0097 a0001c0002t0006g0098 a0001c0002t0006g0099 a0001c0002t0006g0101 a0001c0002t0006g0102 a0001c0002t0006g0167 a0001c0002t0024g0069 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0191 a0002c0003t0003g0193 a0002c0003t0003g0195 a0002c0003t0008g0190 a0002c0003t0020g0194	132	288	0.4583	351	c.-7- others(366): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(344): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	288	0.0035	351	c.-7- others(366): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCCGCCCGGCCAGCCGCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCDC2C_chr2_3698575_3853008	3725555	C C	CGGGGGAT others(344): Show CGGGGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCG GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAG CAGAGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAG GATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGC CA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03540.hp2 HG02055.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0034 a0001c0002t0002g0042 a0001c0002t0001g0034 a0001c0002t0002g0042	2	324	0.0062	351	c.340 others(368): Show c.340-1446_340-1445insGGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTG GATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGG AGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAG CAGAGAGGGAGGAGGCTGCCAGG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDR2_chr1_162627464_162792405	162727099	A A	AAAATATA others(344): Show AAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATAT TTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTT ATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATAT ATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAAC ATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATAT AAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAA ATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTT GT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00639.hp1 others(21): Show HG00558.hp1 HG00609.hp2 HG00639.hp1 HG01169.hp2 HG01361.hp2 HG01515.hp1 HG01978.hp2 HG02083.hp1 HG02683.hp1 HG03540.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18995.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0031	a0001c0002t0001g0046 a0001c0002t0001g0185 a0001c0002t0001g0189 others(21): Show a0001c0002t0001g0046 a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0229 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0249 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0285 a0001c0002t0001g0291 a0001c0002t0001g0293 a0001c0002t0009g0256 a0001c0002t0010g0184 a0001c0002t0010g0188 a0001c0002t0010g0192 a0001c0002t0031g0275	24	302	0.0795	351	c.82+ others(366): Show c.82+8125_82+8126insCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAA ACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAAT ATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGT AAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATT TTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTA TATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATA TTTATATTTTGTAAATATAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGGTG others(344): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	367	0.0027	351	c.-42 others(362): Show c.-4261_-4260insGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGG TGAGGGAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DEFB123_chr20_31435632_31455257	31444314	T T	TTCGTTCT others(344): Show TTCGTTCTTTATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	372	0.0027	351	c.58+ others(366): Show c.58+3576_58+3577insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTCGTTCTTTATAATTTTT	DEFB123	ENSG00000180424.7	transcript	ENST00000376309.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
DIO2_chr14_80192526_80216504	80206449	T T	TAAAAATT others(344): Show TAAAAATTAAATTCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	406	0.0025	351	c.223 others(368): Show c.223-3162_223-3161insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCAGGAATTTAATTTTT	DIO2	ENSG00000211448.14	transcript	ENST00000438257.9	protein_coding	1/1		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr14	TogoVar
DIP2C_chr10_269201_694668	322373	G G	GGCGAGAG others(344): Show GGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCG AGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGC TCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCAGCGAGAGACCGGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	88	0.0114	351	c.392 others(370): Show c.3924+4632_3924+4633insTGGAGCCCCGCACCCCCGACTGACTG TTCTAACAACACCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGAC TGACTGTTCTAACAACGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACT GACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTG ACTGTTCTAACAACACCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGA CTGTTCTAACAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCGGCCTCTCGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	323319	C C	CTGTTAGA others(344): Show CTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGTGAGAGACCGGCGC TGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGCT GTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTG TTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGGCCGGCGTTGT TAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCGGCGCTGTT AGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGCTCCAGCGAGAGACCGG CGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCGAGAGACCGGT GT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	88	0.0114	351	c.392 others(370): Show c.3924+3686_3924+3687insACACCGGTCTCTCGCTGGAGCCCCGC ACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCGCA CCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAG CCCCGCACCCCCGACTGACTGTTCTAACAACGCCGGCCTCTCGCCGGAGC CCCGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCGCCGGAGCC CCGCACCCCCGACTGACTGTTCTAACAGCGCCGGCCTCTCGCCGGAGCCC CGCACCCCCGACTGACTGTTCTAACAGCGCCGGTCTCTCACTGGAGCCCC GCACCCCCGACTGACTGTTCTAACA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608556	C C	CCCCACAC others(344): Show CCCCACACACACACACACCCCCCCACACACACACACCCCCCACACACACA CACACCCCCCCCACACACACACACACCCCCCCCCACACACACACCCCCCC CACACACACACACCCCCCCCCACACACACACACCCCCCCCCACACACACA CACCCCCCCACACACACACACATCCCCCCCACACACACACACATCCCCCC CCACACACACACACACCCCCCCCCACACACACACACACCCCCCCCCACAC ACACACACACATCCCCCCCCCACACACACACACATCCCCCCCCCCACACA CACACATCCCCCCCCCACACACACACACATCCCCCCCCACACACACACAC AT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0046 a0001c0006t0002g0046	1	88	0.0114	351	c.85+ others(368): Show c.85+80937_85+80938insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGGATGTGTGTGTGTGGGGGGGGGGATGTGTGTGTG TGTGGGGGGGGGATGTGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGT GGGGGGGGGTGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGG GATGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTG TGTGGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGGT GTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGGGGGGTGTGTGTGTGT GGGGGGGTGTGTGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(344): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCTGCAAACCCCCACCCCCCCCCACAAACCCCCGCCACCCCCTGC AAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCTCACCA CCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCTGCAAACCCCCACCCCCCCCACACAAACCCCCGCCACC CCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCC TCACCACCCCCCGCAAACCCCCGCCACCCCCCACCACCCCTCACCACCCC CC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	351	c.172 others(368): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCTGCAAACCCCCACCCCCCCCCACAAACCCCCGCCACCC CCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCT CACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCC CACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACACAAACCCCCG CCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCC ACCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCCACCACCCCTCACC ACCCCCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar

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