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
C2orf16_chr2_27532386_27587722	27539760	C C	CCCCCCCC others(499): Show CCCCCCCCCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC CGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCAGCT GGCCGACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGGGGCTCATCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0259 a0002c0006t0001g0259	1	313	0.0032	506	c.144 others(523): Show c.144+2193_144+2194insCCCCCCCGGACGGGGCGGCTGGCCAGGC AGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCCCGCCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGTGGGGCTCATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(499): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTA TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACAGATCTGTATACAGATGTATA CAGATCTGTATACAGATGTATACAGATCTGTATACATCTGTATACAGATC TGTATAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01891.hp2 HG01515.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0241 a0001c0001t0001g0242	2	234	0.0085	506	c.366 others(523): Show c.366+3806_366+3807insGTATACAGATCTGTATACAGATGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACATCTGTATACAGATCT GTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATAC AGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATAT GTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATAC GTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGT ATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACAC CTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGT ATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGT ATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTAT ACAGATATGTATACGTATGTATACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44182117	A A	ACACTCAC others(499): Show ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACTCACACACACACACACT CACATACAGACACAACCACACCACACACACACACACTCACATACAGACAC AGACACAACCACACCACACTCACACACACACACACTCACATACAGACACA ACCACAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	443	0.0023	506	c.193 others(523): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CTCACACACACACACACTCACATACAGACACAACCACACCACACACACAC ACACTCACATACAGACACAGACACAACCACACCACACTCACACACACACA CACTCACATACAGACACAACCACACCAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(499): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTT CCTGTCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0253 a0006c0012t0001g0253	1	205	0.0049	506	c.411 others(523): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGG ATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(499): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTGTATGCACATACATATATACATATGTGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATAC ACACACATATATGTATATATGTATGTGCATACACACACACACATGTATAT ATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACATAC ATATATACATGTGTGTGTGTGTATGCACATACATATATACATATATGTGT GTGTATACACATACATATATACATATGTGTGTATACACACATATATACAT ATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATAT ATACATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0036 a0002c0009t0007g0036	1	143	0.0070	506	c.253 others(525): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATATG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTG TATGCACATACATATATACATATATGTGTGTGTATACACATACATATATA CATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGTATACACACACACATATGTATATA TGTATGTGCATACACACACACATATGTATATATGTATGTGTATACACACA CACATATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(499): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTGTATGCACATACATATATACATATGTGTGTGT GTATGCACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATAC ACACACATATATGTATATATGTATGTGCATACACACACACACATGTATAT ATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACATAC ATATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGT GTGTATACACATACATATATACATATGTGTGTATACACACATATATACAT ATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATAT ATACATA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	143	0.0070	506	c.253 others(525): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTG TATGCACATACATATATACATATATGTGTGTGTATACACATACATATATA CATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACA CACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTA TACACACATATGTATATATGTATGTGCATACACACACACATATGTATATA TGTATGTGCATACACACACACATATGTATATATGTATGTGTATACACACA CACATATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(499): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCA CTTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCT TCCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCC ACTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCC CTTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGT CTTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACT CCCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCT CCCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCT CCCCACTCCGCACTCCCTCCCTCTCCCCCCTCCCCACTCCCCACTCCCTC CCTCTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp1 others(38): Show HG00323.hp2 HG00544.hp1 HG00558.hp1 HG00673.hp2 HG00741.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02965.hp1 HG03017.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03704.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18975.hp1 NA18983.hp1 NA19005.hp2 NA19010.hp1 NA19043.hp1 NA19084.hp1 NA19086.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0020 a0001c0001t0024 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0003t0014 a0001c0003t0015 a0001c0003t0023 a0001c0003t0038 a0001c0004t0001 a0001c0004t0011 a0001c0005t0001 a0001c0005t0052 a0001c0009t0006 a0001c0010t0014 a0002c0007t0037	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0086 others(38): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0086 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0003g0062 a0001c0001t0003g0171 a0001c0001t0004g0138 a0001c0001t0011g0080 a0001c0001t0020g0076 a0001c0001t0024g0012 a0001c0001t0031g0145 a0001c0001t0035g0095 a0001c0001t0036g0016 a0001c0001t0046g0069 a0001c0002t0001g0014 a0001c0002t0001g0116 a0001c0002t0001g0136 a0001c0002t0001g0146 a0001c0002t0002g0011 a0001c0002t0002g0096 a0001c0002t0004g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0004g0130 a0001c0003t0008g0129 a0001c0003t0014g0132 a0001c0003t0015g0070 a0001c0003t0023g0142 a0001c0003t0038g0131 a0001c0004t0001g0077 a0001c0004t0001g0124 a0001c0004t0011g0122 a0001c0005t0001g0110 a0001c0005t0052g0144 a0001c0009t0006g0125 a0001c0010t0014g0159 a0002c0007t0037g0164	41	42	0.9762	506	c.75- others(523): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCCTACTCCCCC TCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTCCCCCTTCCC ACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCTACTCCCCCT TCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTCTACTCTCCC TTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCCTACTCCCTC CATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCTACTCCCCAC TCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCCCTCTCCCTC TCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCCTCTCCCCCC TCCCCACTCCCCACTCCCTCCCTCTTCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(499): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTC CTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTT TCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	506	c.69 others(517): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCC TCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTC CCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCT TCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHMP1A_chr16_89639435_89662708	89647901	C C	CACCCAGC others(499): Show CACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGC GCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTC GGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	155	0.0065	506	c.253 others(521): Show c.253-571_253-570insCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCGCTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCGCTGGGT	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(499): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATA TTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATA TTTTATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG01993.hp2 others(2): Show HG01496.hp1 HG01981.hp1 HG01993.hp2 HG02273.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0018 a0001c0001t0001g0093 a0001c0001t0001g0094	5	96	0.0521	506	c.80- others(521): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTTA TTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTT ATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(499): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATA TTTTATT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	92	0.0109	506	c.80- others(521): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTT ATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(499): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATA TTTTATT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	92	0.0109	506	c.80- others(521): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTT ATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(499): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	92	0.0109	506	c.80- others(521): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTT ATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(499): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC ATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACAC GTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATAT ACATGTGTGTATATACACGTATATATACTCATATACGTGTGTATATACAC GTATATATACTCATATACGTGTGTATATACACGTATATATACTCATATAC ATGTGTG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19003.hp2 NA19083.hp1 NA18986.hp2 NA19003.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250	3	355	0.0085	506	c.894 others(521): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACGTATATGAGTATATATACGTGTATATACACACGTATATGAG TATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATA TACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(499): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACGTGTATATATACTCATATACATGTGTGTA TATACGT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19000.hp2 NA19079.hp2 NA18945.hp1 NA19000.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258	3	242	0.0124	506	c.894 others(521): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACACGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATA TACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACA CACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTA TATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATA CACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(499): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTC CCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTT CCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCC CCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCC TTCCTCC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0040 a0001c0001t0076g0040	1	2	0.5000	506	c.162 others(527): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCT CCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCT TCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTC CTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTT CCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(499): Show CTTCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCCCTC CCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCT CTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	68	0.0147	506	c.-42 others(517): Show c.-4215_-4214insTTCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACC TCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTC TCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCT CTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(499): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04204.hp1 HG00741.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0039 a0001c0001t0001 a0001c0012t0039	a0001c0001t0001g0147 a0001c0012t0039g0230 a0001c0001t0001g0147 a0001c0012t0039g0230	2	178	0.0112	506	c.925 others(521): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(499): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0239 a0001c0046t0001g0239	1	177	0.0056	506	c.925 others(521): Show c.925-666_925-665insTGAGCGTGTGTGAGCGTGTGTGCATGCGGG CACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCA TGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTG TGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTG AGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134760406	T T	TCATACAC others(499): Show TCATACACACATGCACACACACCACACATGCACACAATACACACCCACAC TCCCACACTCATACACACATGCACACACACCACACATGCACACACGCATA CACACCCACACCCCCCCCACTCACACGCACACCCCCACACCCCCACACTC ATACACACATGCACACACACCACACAGGCACACACACACCCACGCACCCC CACACTCATACATGCACACACACGCATACACGCCCACACACCCCCATACT CATACACGCCCACACACCCCCACACTCACATGTGCACAGACACCACACAT GCACACACATACATGCACACACACATACACACCCACACCCCCACACTCAT ACACACATGCACACACCACACATGCGCGCACACGCATACACACCCACACA CCCCACACTGATACACACATGCACACACGCACACACCCCCACACCCCCCA CACTCATACACACATGCACACACCACACATGCACACACACACCCACACAC CCCCACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0179 a0001c0018t0008g0179	1	210	0.0048	506	c.193 others(525): Show c.1936-1484_1936-1483insATACACACCCACACTCCCACACTCAT ACACACATGCACACACACCACACATGCACACACGCATACACACCCACACC CCCCCCACTCACACGCACACCCCCACACCCCCACACTCATACACACATGC ACACACACCACACAGGCACACACACACCCACGCACCCCCACACTCATACA TGCACACACACGCATACACGCCCACACACCCCCATACTCATACACGCCCA CACACCCCCACACTCACATGTGCACAGACACCACACATGCACACACATAC ATGCACACACACATACACACCCACACCCCCACACTCATACACACATGCAC ACACCACACATGCGCGCACACGCATACACACCCACACACCCCACACTGAT ACACACATGCACACACGCACACACCCCCACACCCCCCACACTCATACACA CATGCACACACCACACATGCACACACACACCCACACACCCCCACACATAC ACACATGCACACACACCACACATGCACACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(499): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGAGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGG GAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGA GGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGG GGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGTG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0001 a0022c0039t0001	a0022c0039t0001g0114 a0022c0039t0001g0114	1	220	0.0045	506	c.630 others(521): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGC GGGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CROCC2_chr2_240901336_240998311	240924929	G G	GTCCCCAC others(499): Show GTCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACC CAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCAACACTAACCCGGCCCCCCACACTAACCCAGTCCCCC ACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCC CCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGG CCCCCACACTAACCCAGCCCCCACACTGACCCAGCCCCCACACTGACCCA GTCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAAC CCAGTCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCACACTGA CCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0034 a0015c0015t0001g0034	1	314	0.0032	506	c.489 others(521): Show c.489-795_489-794insTCCCCACACTGACCCGGCCCCCCACACTAA CCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCAACACTAACCCGGCCCCC CACACTAACCCAGTCCCCCACACTAACCCAGCCCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTGACCC GGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTGACC CAGCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCACACT GACCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGTCCCCCACACTAACCCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CTU2_chr16_88701503_88720396	88712921	C C	CCCCCTTC others(499): Show CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATACCCGAGAGCCCCCCCTTCCCCGGGCCCTGACCC CCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCA TACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCC CCCTTTCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0067 a0002c0003t0001g0067	1	252	0.0040	506	c.737 others(519): Show c.737+20_737+21insTTCCCCGGGCCCTGACCCCCACTCATGCCCCT GAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCC CCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCCCTTCCCCGGGCCCTGACCCCCACTCATG CCCCTGAGAGCCCCCCTTTCCCGGGCCCTGACCCCCACTCATACCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCC	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238177	G G	GGAGGGAG others(499): Show GGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGG AGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAG GGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGACAGAGG GGAGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0011 a0002c0002t0014g0011	1	213	0.0047	506	c.923 others(525): Show c.923-33076_923-33075insCCCCTCCCCTCTGTCTCCCCCTTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCAC TCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTC CCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TTCATTCCTCCCTCCCTCCCTTCCTCCCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(499): Show GAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGA GGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAA GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGG AGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGG AGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAG AAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGG AGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGG AGAAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	52	0.0192	506	c.158 others(523): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCT CCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCT CCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTT CTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCT CCCTTCTTCTCCCCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522761	A A	ACCCAGCC others(499): Show ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCGAGCCAGAGCCCAGCCAAGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0116 a0001c0007t0005g0116	1	260	0.0038	506	c.236 others(525): Show c.2363-1161_2363-1160insAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCGAGCCAGAGCCCAGCCAAGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1384950	G G	GCACAGTT others(499): Show GCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTATGCCCGGCCCCTGAGAACTTGGTGCACGGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACGGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGCCCCCTGAGAAATTGGTGCACAGTTACCCCG GCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGC CCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCC TGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACT TGGTGCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	23	0.0435	506	c.107 others(527): Show c.107-116414_107-116413insCAGTTACCCCGGCCTGTGCCCGGC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGA ACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTG CACGGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTA CCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACGGTTACCCCGGCC TGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCG TCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGCCCCCTGA GAAATTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGG TGCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGT TACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGG CCTGTGCCCGGCCCCTGAGAACTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1384950	G G	GCACAGTT others(499): Show GCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTGGTGCACAGTT ACCCCGGCCTATGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGC CTATGCCCGGCCCCTGAGAACTTGGTGCACGGTTACCCCGGCCTGTGCCC GTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTG AGAACTTGGTGCACGGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACTTG GTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAG TTACCCCGGCCTGTGCCCGCCCCCTGAGAAATTGGTGCACAGTTACCCCG GCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGC CCGTCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCC TGAGAACTTGGTTCACAGTTACCCCGGCCTGTGCCCGGCCCCTGAGAACT TGGTGCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	23	0.0435	506	c.107 others(527): Show c.107-116414_107-116413insCAGTTACCCCGGCCTGTGCCCGGC CCCTGAGAACTTGGTGCACAGTTACCCCGGCCTATGCCCGTCCCCTGAGA ACTTGGTGCACAGTTACCCCGGCCTATGCCCGGCCCCTGAGAACTTGGTG CACGGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGTTA CCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACGGTTACCCCGGCC TGTGCCCGGCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCG TCCCCTGAGAACTTGGTGCACAGTTACCCCGGCCTGTGCCCGCCCCCTGA GAAATTGGTGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGG TGCACAGTTACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTGCACAGT TACCCCGGCCTGTGCCCGTCCCCTGAGAACTTGGTTCACAGTTACCCCGG CCTGTGCCCGGCCCCTGAGAACTTGGTGCACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FCMR_chr1_206898317_206926941	206924299	A A	AGTGTGTG others(499): Show AGTGTGTGTGCTCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGTGA TTGTGTGTGTGATGTGTGTCCATGAGTGTGTGTGTGCTCTGTGGAGTGTG TGAATGTGTGGTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGC TATGTGTGTGTGCTATGTGTTGTGTGTGGTATGTAGTTATGAGTGTGTGT CACTGCGTGGTGTGTGGCTATGAGTGTGTGTGTGCGCACTCTATGCTCTG TCTAGTGTGTGTGTGGTTGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAG TGTGTGTGTTCTCTGTCTAGTGTGTGTGTGGTTATGTGTGTGTGATTGTG TGTGTGGTGTGTGTCCATGAGTGTGTGTGTGCTCTGTAGAGTGTGTGTGT GGCGTGTGGCTATGAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGT GTGGCTATGAGTGTGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGC TATGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0136 a0001c0009t0001g0136	1	377	0.0027	506	c.-24 others(517): Show c.-2446_-2445insACTCATAGCCACACACCACACACACACTCCACAG AGCACACACACACTCATAGCCACACACCACACACACACTCCACAGTGCAC ACACACACTCATAGCCACACGCCACACACACACTCTACAGAGCACACACA CACTCATGGACACACACCACACACACAATCACACACACATAACCACACAC ACACTAGACAGAGAACACACACACTCATAACTACACACCACACACTCACA CACTCAACCACACACACACTAGACAGAGCATAGAGTGCGCACACACACAC TCATAGCCACACACCACGCAGTGACACACACTCATAACTACATACCACAC ACAACACATAGCACACACACATAGCCACACACCACACATTCACACACACT CATAGCCACACACCACACATTCACACACTCCACAGAGCACACACACACTC ATGGACACACATCACACACACAATCACACACACATAACCACACACCACAC ACACTAGACAGAGCACACACAC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2359		chr1	TogoVar
FLT3_chr13_27998274_28105576	27998965	G G	GTATATAC others(499): Show GTATATACATATATATATGTATATACATATAAATATATATGTATATACAT ATAAATATATATGTATATACATATAAATATATATGTATATACATATAAAT ATATATGTATATAAATATATATGTATGTATATTATATACATATAAATATA TATGTATATAATATATATGTATGTATATTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATTTACATACATATAAATATATATTTACAAA CATATAAATATATATATTTATATACATATAATACATATACATATATACAT ATAAATATATATTTATATATATAAATATATATATTTATATATATAAATAT ATATATTTATATATATAAATATATATATTTATATATATAAATATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT TTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02486.hp1 HG02572.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0047 a0003c0003 a0004c0047	a0003c0003t0002 a0004c0047t0002 a0003c0003t0002 a0004c0047t0002	a0003c0003t0002g0272 a0004c0047t0002g0282 a0003c0003t0002g0272 a0004c0047t0002g0282	2	116	0.0172	506	c.50 others(517): Show c.5086_*5087insTATATAAATATATATATTTATATATATATAAATA TATATATATTTATATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATATATAAATATATATTTATATGTATATATGTATATGTATTATATGT ATATAAATATATATATTTATATGTTTGTAAATATATATTTATATGTATGT AAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAATATA CATACATATATATTATATACATATATATTTATATGTATATAATATACATA CATATATATTTATATACATATATATTTATATGTATATACATATATATTTA TATGTATATACATATATATTTATATGTATATACATATATATTTATATGTA TATACATATATATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4308		chr13	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(499): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAG ACGGAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG01123.hp1 others(31): Show HG00140.hp1 HG00558.hp1 HG01123.hp1 HG01256.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02015.hp2 HG02135.hp1 HG02135.hp2 HG02273.hp2 HG02486.hp1 HG02970.hp1 HG03017.hp2 HG03831.hp1 HG04184.hp1 NA18906.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18959.hp1 NA18970.hp2 NA18998.hp1 NA19004.hp2 NA19056.hp2 NA19058.hp2 NA19078.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0057 a0001c0001t0001g0248 a0001c0001t0001g0263 others(27): Show a0001c0001t0001g0057 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0308 a0001c0001t0010g0105 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0256 a0001c0002t0001g0359 a0001c0002t0001g0362 a0001c0002t0001g0374 a0001c0002t0013g0043 a0001c0003t0001g0029 a0001c0003t0001g0227 a0001c0003t0001g0231 a0001c0003t0003g0226 a0001c0003t0003g0228	34	121	0.2810	506	c.146 others(523): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGA GCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(499): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAG ACGGAGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02523.hp2 NA18979.hp1 HG00558.hp2 HG02523.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0369 a0001c0002t0001g0063 a0001c0002t0001g0368 a0001c0001t0001g0369 a0001c0002t0001g0063 a0001c0002t0001g0368	3	90	0.0333	506	c.146 others(523): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGA GCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(499): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAG ACGGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01346.hp1 HG02976.hp2 others(8): Show HG00741.hp2 HG01346.hp1 HG02976.hp2 HG03491.hp1 NA18960.hp2 NA18977.hp1 NA18981.hp2 NA18985.hp1 NA19005.hp1 NA19082.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0014 a0001c0001 a0001c0002 a0006c0014	a0001c0001t0001 a0001c0002t0001 a0006c0014t0001 a0001c0001t0001 a0001c0002t0001 a0006c0014t0001	a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0115 others(8): Show a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0309 a0001c0002t0001g0090 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0259 a0006c0014t0001g0126	11	98	0.1122	506	c.146 others(523): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGA GCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GRAMD4_chr22_46615386_46684785	46635194	C C	CCCCCGAC others(499): Show CCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACC CCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTG GCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGG GGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAA CCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGT GTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCC TGCCTGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	315	0.0032	506	c.163 others(523): Show c.163-2641_163-2640insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTG CCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACC CCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCCG GCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTC CTGGGGAACCGTGTCCTGCCTGTCCCCG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635223	G G	GAACCGTG others(499): Show GAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTG TCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCT CCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCT GCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCT CCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCAC CCCCGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCC GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCC ACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTC CTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGT CCTGGGA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02148.hp1 NA19002.hp2 others(1): Show HG01943.hp1 HG02148.hp1 NA19002.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0060 a0001c0001t0002 a0001c0001t0060	a0001c0001t0002g0172 a0001c0001t0002g0287 a0001c0001t0002g0294 others(1): Show a0001c0001t0002g0172 a0001c0001t0002g0287 a0001c0001t0002g0294 a0001c0001t0060g0286	4	310	0.0129	506	c.163 others(523): Show c.163-2617_163-2616insAACCGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCC TGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAA CCGTGTCCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGGACCGT GTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCC TGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTC CCCGCCCCCGGCCACTCCTGTCCTGGGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRID1_chr10_85594552_86371795	86121548	T T	TATCTCAC others(499): Show TATCTCACCATCATTATCACCATCAGCATCATCATCACCATCATTATCAC CATCATCATAATCATCATCACAATCATCATCATCACCACCATCACCATCA TCACCATCACCATTACCATCATCACCATCACCATCATCATCACTACCATC ATCACCATCATCACCATCACCATCATCATCACTACCATCATCACCATCAT CACCATCACCATTATCTCACCATCATTATCACCATCAGCATCATCATCAC CATCATTATCACCATCATCATAATCATCATCACAATCATCATCATCACCA CCATCACCATCATCACCATCACCATTACCATCATCACCATTATCACCACC ATCACCATCATCTTACCATCATTATCACCATCATCATCACCATCACCACC ATCATTACACCACCATTACAATCATCTCACCATCATTATCACCATCATCA TCACACTGTCACCAACATCTCACTATCATTATCACCACCATCATCACCAT TACCATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0006 a0001c0001t0002 a0001c0011t0006	a0001c0001t0002g0017 a0001c0011t0006g0068 a0001c0001t0002g0017 a0001c0011t0006g0068	2	51	0.0392	506	c.726 others(525): Show c.726+17270_726+17271insGATGGTAATGGTGATGATGGTGGTGA TAATGATAGTGAGATGTTGGTGACAGTGTGATGATGATGGTGATAATGAT GGTGAGATGATTGTAATGGTGGTGTAATGATGGTGGTGATGGTGATGATG ATGGTGATAATGATGGTAAGATGATGGTGATGGTGGTGATAATGGTGATG ATGGTAATGGTGATGGTGATGATGGTGATGGTGGTGATGATGATGATTGT GATGATGATTATGATGATGGTGATAATGATGGTGATGATGATGCTGATGG TGATAATGATGGTGAGATAATGGTGATGGTGATGATGGTGATGATGGTAG TGATGATGATGGTGATGGTGATGATGGTGATGATGGTAGTGATGATGATG GTGATGGTGATGATGGTAATGGTGATGGTGATGATGGTGATGGTGGTGAT GATGATGATTGTGATGATGATTATGATGATGGTGATAATGATGGTGATGA TGATGCTGATGGTGATAATGATGGTGAGAT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATACG others(499): Show TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATGTATGGAATATACATATGGAATATA TATGTTTGGAATATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	302	0.0033	506	c.-19 others(517): Show c.-1905_-1904insATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATATA TGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATA TACATATGGAATATATATGTTTGGAATATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IGFBP5_chr2_216667105_216700549	216691840	T T	TGTGTGTG others(499): Show TGTGTGTGTGTGTGTGTGTGTGTATGCTGCAACTGCGGGAGGGAGGGGAC AAATCCATATCTGCAAGCTCAGATTTTGGCGGGGGTGAGGGAGAGGAGGG AGGTGGGAGGTGTGTTGGGAAGCAGGAATTTTGGCTAAAGGACCAAAAGG GCACTCTCCCTCTCTCTGTCCATTTCTCTCTCCTTAAGAACGGTCTCTAC ACCATCTCCAACTTTTTGGGGACCCGCCCAGTGGTTGTCCGGCTAAAACG CCCTTTCCAGGAGCGCCCACTCCCATCCCATCTGTTCGGGAAGAAGATGT CGGCACCAGCAGCGGTGGAGCGCCGCCAACCCGCAACAGCAGCCGGCCGG GCACCTGCCTTCGGCGGGGTGGAGTCGGAGAGGAGTGCTGGGGAGGGGGC GGGTAGAAGAGGCGGCTTCGGGTTGGCCCAAAGGCACTCAGAAGGTGGGG GTTGAGCAAGGGGCGGCAGGGAATTCTACAGGGGATCTTGCTTGGGACTG AAGTGTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	420	0.0024	506	c.337 others(523): Show c.337+2598_337+2599insGACACTTCAGTCCCAAGCAAGATCCCCT GTAGAATTCCCTGCCGCCCCTTGCTCAACCCCCACCTTCTGAGTGCCTTT GGGCCAACCCGAAGCCGCCTCTTCTACCCGCCCCCTCCCCAGCACTCCTC TCCGACTCCACCCCGCCGAAGGCAGGTGCCCGGCCGGCTGCTGTTGCGGG TTGGCGGCGCTCCACCGCTGCTGGTGCCGACATCTTCTTCCCGAACAGAT GGGATGGGAGTGGGCGCTCCTGGAAAGGGCGTTTTAGCCGGACAACCACT GGGCGGGTCCCCAAAAAGTTGGAGATGGTGTAGAGACCGTTCTTAAGGAG AGAGAAATGGACAGAGAGAGGGAGAGTGCCCTTTTGGTCCTTTAGCCAAA ATTCCTGCTTCCCAACACACCTCCCACCTCCCTCCTCTCCCTCACCCCCG CCAAAATCTGAGCTTGCAGATATGGATTTGTCCCCTCCCTCCCGCAGTTG CAGCATACACACACACACACACACACAC	IGFBP5	ENSG00000115461.5	transcript	ENST00000233813.5	protein_coding	1/3			chr2	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(499): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA19043.hp1 HG03704.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0156 a0001c0001t0001g0099 a0001c0001t0001g0156	2	12	0.1667	506	c.10- others(523): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(499): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCC CTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCC CACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	11	0.0909	506	c.10- others(523): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(499): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01433.hp2 HG01169.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0220 a0001c0001t0001g0158 a0001c0001t0001g0220	2	12	0.1667	506	c.10- others(523): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(499): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCT CCTCCCA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp1 HG06807.hp1 HG03139.hp2 HG03471.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0210 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0001g0210 a0001c0001t0005g0140 a0001c0001t0005g0141	3	13	0.2308	506	c.10- others(523): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCC CCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(499): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTC CCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCT GTCCCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG06807.hp2 HG02486.hp1 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0077 a0003c0005t0009g0281 a0003c0005t0009g0077 a0003c0005t0009g0281	2	120	0.0167	506	c.258 others(523): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCC TCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGA CCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(499): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCC CCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCAGAACCGGACC CCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTC CACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACTGGACCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACTGGACCCCTCCCCT GTCCCCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0026 a0002c0001t0008g0026	1	119	0.0084	506	c.258 others(523): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCC CTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCTCA GAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC TGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACTGGA CCCCTCCCCTGTCCCCTCACAGAACCGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077352	G G	GATATATA others(499): Show GATATATATGATATATATATGATATATATGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATATGATATATATGTGAAAT ATATATATGATATATATGTGAAATATATATATGATATATATGTGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATATGATATATATGTGAAATATATAT ATGATATATATGTGAAATATATATGATATATATGTGAAATATATATGATA TATATGTGAAATATATATGATATATATGATATATATGATATATATGATAT ATATGAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	320	0.0031	506	c.25- others(521): Show c.25-1875_25-1874insATGATATATATGAAATATATATATGATATA TATGTGAAATATATATATGATATATATGTGAAATATATATATGATATATA TGTGAAATATATATATGATATATATGTGAAATATATATATGATATATATG TGAAATATATATATGATATATATGTGAAATATATATATGATATATATGTG AAATATATATATGATATATATGTGAAATATATATATGATATATATGTGAA ATATATATATGATATATATGTGAAATATATATATGATATATATGTGAAAT ATATATATGATATATATGTGAAATATATATATGATATATATGTGAAATAT ATATATGATATATATGTGAAATATATATATGATATATATGTGAAATATAT ATATGATATATATGTGAAATATATATGATATATATGTGAAATATATATGA TATATATGTGAAATATATATGATATATATGATATATATGATATATATGAT ATATATGATATATATATGATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(499): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCTCT CCCCTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCT CCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTC TCCCCCTCCCCTCCCCCCTCTCGCCCTCCCCCTCCCCCATCCCCCTCCCC CATCCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTT CCCCCTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0030 a0002c0025t0030	a0002c0025t0030g0103 a0002c0025t0030g0103	1	56	0.0179	506	c.11 others(527): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCT CCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCT CTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCC CCTCTCTCTCCCCCTCCCCTCCCCCCTCTCGCCCTCCCCCTCCCCCATCC CCCTCCCCCATCCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCT CCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCC CTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTC CCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCC CCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178758739	G G	GATATATA others(499): Show GATATATATATATATATATATCTCCAAAAGGAGATATATATATATATATA TATCTCCAAGAGGAGATATATATATATATATATATATATCTCCAAGAGGA GATATATATATATATATATATATCTCCTCTTGGAGATATATATATATATC TCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATA TCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATA TATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATA TATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAG AGGAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	122	0.0082	506	c.-67 others(525): Show c.-67-48586_-67-48585insATCTCCAAAAGGAGATATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATATATCTCCAA GAGGAGATATATATATATATATATATATCTCCTCTTGGAGATATATATAT ATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATAT ATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATAT ATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATAT ATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGG AGATATATATATATATCTCCAAGAGGAGATATATATATATATATATATCT CCAAGAGGAGATATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KRT75_chr12_52419070_52439371	52438135	C C	CCCAGGGG others(499): Show CCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGG CCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGT GGAGAAGATAATTCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGG TAATTCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTG TTGTGGACACTCCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGA CACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAG GGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCCAGGGGCCGA GTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAG AAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATAAT TCTGTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGT GGACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03195.hp1 HG02559.hp2 HG03195.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0065 a0001c0005t0002g0066 a0001c0005t0002g0065 a0001c0005t0002g0066	2	335	0.0060	506	c.-38 others(517): Show c.-3832_-3831insAGTGTCCACAACAGAATTACCTTCTCCACACTCG GTCCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGG AGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCA CAACAGAATTACCTTCTCCACACTCGGCCCCTGGGAGTGTCCACAACAGA ATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTT CTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACAC TCGGCCCCTGGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGTCC CTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGTCCCTGGAGTG TCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGGAGTGTCCACAAC AGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTAC CTTCTCCACACTCGGCCCCTGG	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3765		chr12	TogoVar
KRT75_chr12_52419070_52439371	52438145	G G	GAGTGTGG others(499): Show GAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGG AGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATA ATTCTGTTGTGGACACTCCAGGGACTGAGTGTGGAGAAGGTAATTCTGTT GTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGGACAC TCCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGG GCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTG TGGAGAAGGTAATTCTGTTGTGGACACTCCCAGGGGCCGAGTGTGGAGAA GGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGGTAATTC TGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATAATTCTGTTGTGG ACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCA GGGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(52): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02148.hp1 HG02300.hp1 HG02683.hp2 HG03209.hp1 HG03490.hp2 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18943.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18995.hp1 NA19004.hp1 NA19007.hp1 NA19054.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19074.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0012c0027 a0003c0003 a0012c0027	a0003c0003t0003 a0012c0027t0001 a0003c0003t0003 a0012c0027t0001	a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0082 others(6): Show a0003c0003t0003g0003 a0003c0003t0003g0005 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0084 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0088 a0012c0027t0001g0087	55	413	0.1332	506	c.-38 others(517): Show c.-3842_-3841insTGGCCCCTGGAGTGTCCACAACAGAATTACCTTC TCCACACTCGGTCCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACT CGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCT GGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGGAGTGT CCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACA GAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACC TTCTCCACACTCGGCCCCTGGGAGTGTCCACAACAGAATTACCTTCTCCA CACTCGGTCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCAGT CCCTGGAGTGTCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGGAG TGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACA ACAGAATTACCTTCTCCACACT	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3775		chr12	TogoVar
LRRC74A_chr14_76821408_76875304	76867096	G G	GTGGGGTG others(499): Show GTGGGGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGTGTGTGTTG GGGGGATGGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTGTTGGGGG TGGGGTGTGTGGTAGTGTGTGTGGGGGAGTGTGTGTGTTGGGGGGTGGGG TGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGT GGGGTGTGTGTGTGTGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGT GGTAGTGTGTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGG GGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTT GGGGGGGTGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGG GGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGT GTGTGTGGGTGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAG TGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02027.hp1 HG00438.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0214 a0001c0001t0001g0112 a0001c0001t0001g0214	2	406	0.0049	506	c.130 others(523): Show c.1309-260_1309-259insTGGGGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGGGGGGGTGTGTGTTGGGGGGATGGGGTGTGTGTGTGGTAGTGTG GGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGGTAGTGTGTGTGGGGGAG TGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGG TGTGTGGGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGGGGGTGTGTGTT GGGGGGATGGGGTGTGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTGTTGG GGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGT GTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTGGTAGTGT GTGGGGGGGTGTGTGTGTTGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGG TGTGTGTGTGTGTGGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGTG GGGTGTGTGTGTGTGTGGTAGTGTGTGT	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13			chr14	TogoVar

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