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
FGFR1OP2_chr12_26933470_26971648	26960170	C C	CCTAAACA others(184): Show CCTAAACACAAAAGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGC ACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0086 a0001c0001t0018g0086	1	424	0.0024	191	c.397 others(206): Show c.397-325_397-324insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCA CCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAAACACA AAAGTAATTTT	FGFR1OP2	ENSG00000111790.14	transcript	ENST00000229395.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATAT others(184): Show ATATATATAAATATATTTATATAAATATATAAATATATTTATATAAATAT AAATATATTTATATAAATATATAAATATATTTATATAAATATATAAATAT ATTTATATAAATATAAATATATTTATATAAATATATAAATATAAATATAT TTATATAATATATTTATATAAATATATAAATATAAATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	32	0.0313	191	c.279 others(210): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATATTTATATTTATATATTTATATAAATATAT TTATATTTATATAAATATATTTATATATTTATATAAATATATTTATATAT TTATATAAATATATTTATATTTATATAAATATATTTATATATTTATATAA ATATATTTATATATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60860593	A A	ATACATAT others(184): Show ATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACAT ATGATGTATGTCATGTATACATATGATGTATCTCATGTATACATATGATG TATCTCATGTATACATATGATGTATCTCATGTATACATATGATGTATCTC ATGTATACATATGATGTATCTCATGTATACATATGATGTATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	45	0.0222	191	c.-11 others(212): Show c.-110-38583_-110-38582insGATACATCATATGTATACATGAGA TACATCATATGTATACATGAGATACATCATATGTATACATGAGATACATC ATATGTATACATGAGATACATCATATGTATACATGAGATACATCATATGT ATACATGACATACATCATATGTATACATGACATACATCATATGTATACAT GACATACATCATATGTA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FTCD_chr21_46131779_46160579	46145767	C C	CCGCCCTC others(184): Show CCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTT CCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGCGCC CTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACA ACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19043.hp2 HG02630.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0197 a0001c0002t0002g0198	2	171	0.0117	191	c.109 others(206): Show c.1098+50_1098+51insCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAG GGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGG GCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTG GGGGGAGGGCG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
FUT10_chr8_33365824_33478146	33462169	G G	GAGGGGAG others(184): Show GAGGGGAGAGGAGGGGACAGTGGGGAGGGGAGTGGAGGGGAGGGGGGAAG TGAGGGAAGGGGGGGAGAGAGGGAGGGGAGGGAGTGGAGGGCAGGGGAGG CAGGGAGTGGAGGGCAGGGGAGGCAGAGAGAGGAGGGAAGGGAGTGGAGG GCAGGGGAGGGGGAGAGAGGAGGGGAGGGGGAGGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	130	0.0077	191	c.-27 others(208): Show c.-273-445_-273-444insTCCCTTCCCCTCCCCCTCCCCTCCTCTC TCCCCCTCCCCTGCCCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTG CCCTCCACTCCCTGCCTCCCCTGCCCTCCACTCCCTCCCCTCCCTCTCTC CCCCCCTTCCCTCACTTCCCCCCTCCCCTCCACTCCCCTCCCCACTGTCC CCTCCTCTCCCCT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
FUT10_chr8_33365824_33478146	33462169	G G	GAGGGGAG others(184): Show GAGGGGAGAGGAGGGGACAGTGGGGAGGGGAGTGGAGGGGAGGGGGGAAG TGAGGGAAGGGGGGGGAGAGAGGAGGGGAGGGAGTGGAGGGCAGGGGAGG CAGGGAGTGGAGGGCAGGGGAGGCAGAGAGAGGAGGGAAGGGAGTGGAGG GCAGGGGAGGGGGGAGAGAGGAGGGGAGGGGAGGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	130	0.0077	191	c.-27 others(208): Show c.-273-445_-273-444insTCCCTTCCCCTCCCCTCCCCTCCTCTCT CCCCCCTCCCCTGCCCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTG CCCTCCACTCCCTGCCTCCCCTGCCCTCCACTCCCTCCCCTCCTCTCTCC CCCCCCTTCCCTCACTTCCCCCCTCCCCTCCACTCCCCTCCCCACTGTCC CCTCCTCTCCCCT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
FUT10_chr8_33365824_33478146	33462169	G G	GAGGGGAG others(184): Show GAGGGGAGAGGAGGGGACAGTGGGGAGGGGAGTGGAGGGGAGGGGGGGAA GTGAGGGAAGGGGGGGGAGAGAGGAGGGGAGGGAGTGGAGGGCAGGGGAG GCAGGGAGTGGAGGGCAGGGGAGGCAGAGAGAGGAGGGAAGGGAGTGGAG GGCAGGGGAGGGGGAGAGAGGAGGGGAGGGGAGGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	130	0.0077	191	c.-27 others(208): Show c.-273-445_-273-444insTCCCTTCCCCTCCCCTCCCCTCCTCTCT CCCCCTCCCCTGCCCTCCACTCCCTTCCCTCCTCTCTCTGCCTCCCCTGC CCTCCACTCCCTGCCTCCCCTGCCCTCCACTCCCTCCCCTCCTCTCTCCC CCCCCTTCCCTCACTTCCCCCCCTCCCCTCCACTCCCCTCCCCACTGTCC CCTCCTCTCCCCT	FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	1/4			chr8	TogoVar
GABRA3_chrX_152161234_152456315	152275142	A A	ATATATAT others(184): Show ATATATATATTTAATATTATATATATAATTTATATATATTTAATATTATA TATATAATTTATATTTAATATTATATATATAATTTATATTTAATATTATA TATATAATTTATATATATTTAATATTATATATATAATTTATATTTAATAT TATATATATAATTTATATATATTTAATATTATATATATAATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp2 HG03098.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0001g0023 a0001c0001t0001g0107	2	183	0.0109	191	c.330 others(208): Show c.330+9525_330+9526insAATTATATATATAATATTAAATATATAT AAATTATATATATAATATTAAATATAAATTATATATATAATATTAAATAT ATATAAATTATATATATAATATTAAATATAAATTATATATATAATATTAA ATATAAATTATATATATAATATTAAATATATATAAATTATATATATAATA TTAAATATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152275216	A A	ATATATAT others(184): Show ATATATATAATTTATATTTATTTAATATTATATATATAATTTATATTTAA TATTATATATATAATTTATATATATTTAATATTATATATATAATTTATAT TTAATATTATATATATAATTTATATATATTTAATATTATATATATAATTT ATATATATTTAATATTATATATATAATTTATATATATAATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	192	0.0052	191	c.330 others(208): Show c.330+9451_330+9452insATATTATATATATAAATTATATATATAA TATTAAATATATATAAATTATATATATAATATTAAATATATATAAATTAT ATATATAATATTAAATATAAATTATATATATAATATTAAATATATATAAA TTATATATATAATATTAAATATAAATTATATATATAATATTAAATAAATA TAAATTATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(184): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	19	0.0526	191	c.-20 others(200): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGA GGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(184): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGA GGGGAGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG02258.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0139 a0001c0002t0006g0140 a0001c0001t0001g0139 a0001c0002t0006g0140	2	20	0.1000	191	c.-20 others(200): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGA GGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807573	C C	CCCCCCTC others(184): Show CCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0209 a0003c0003t0001g0209	1	307	0.0033	191	c.34 others(202): Show c.3407_*3408insCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCT CCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3287		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807652	C C	CCTCCCCC others(184): Show CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTC AACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	1	311	0.0032	191	c.34 others(202): Show c.3486_*3487insCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3366		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132244360	G G	GGGGGGGG others(184): Show GGGGGGGGCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTG GACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGA CGGGGGCGTGGTGATGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCG TGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	182	0.0055	191	c.107 others(210): Show c.1077+3549_1077+3550insGTCCAGCCCCCATCACCACGCCCCCA TCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATC CATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGTCCAGCCCCA TCACCACGCCCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77258950	C C	CATGGTGG others(184): Show CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGATGATGATGGTGGT CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGATGATG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0057 a0001c0001t0100g0057	1	302	0.0033	191	c.732 others(208): Show c.732+2734_732+2735insCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTG ATGATGATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTG ATGATGATGGTGG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259065	C C	CATGGTGG others(184): Show CATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGATGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATGATGGTGGT CATGGTGGTGATGGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTG GTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTGGTGATG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0319 a0001c0004t0018g0319	1	200	0.0050	191	c.732 others(208): Show c.732+2849_732+2850insCGATTGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGATGTTGGTGGTGGTCATGGTGGTCATGGTG GTGATGATGGTGGTCATGGTGGTGATGGTGGTGATGGTGGTGGATGGTGG TGGTGGTCACAGTGGTGGTGGTGTTGGTGGTGGTCATGGTGGTCATGGTG GTGATGATGGTGG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(184): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGAG GAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGATGG GGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAAG ATGGGGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02165.hp1 HG04199.hp1 others(1): Show HG01891.hp2 HG02165.hp1 HG04199.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0014 a0001c0001 a0001c0003 a0004c0014	a0001c0001t0001 a0001c0003t0001 a0004c0014t0003 a0001c0001t0001 a0001c0003t0001 a0004c0014t0003	a0001c0001t0001g0094 a0001c0003t0001g0034 a0001c0003t0001g0042 others(1): Show a0001c0001t0001g0094 a0001c0003t0001g0034 a0001c0003t0001g0042 a0004c0014t0003g0002	4	7	0.5714	191	c.590 others(208): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCCCCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACT CCCCCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCC TCTTTCTTCTCCTCCTCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCCC CCTCCTCCTCCCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308341	T T	TCATCACC others(184): Show TCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCA CCATCACCATCACCATCACCACCACCACCACCACCATCACCACCAAATAC CACCACCACCACCATGTCCACCACCACTACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02109.hp1 HG03834.hp1 HG01257.hp2 HG02109.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0342 a0001c0001t0002g0299 a0001c0001t0002g0304 a0001c0001t0002g0342	3	334	0.0090	191	c.961 others(208): Show c.961+1148_961+1149insCACCACCACCATCACCACCACCACCACC ACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCACTA CCACCACCATCACCATCACCATCACCACCACCACCACCACCATCACCACC AAATACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCA TCACCATCACCAC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GOLM1_chr9_86021146_86104558	86053684	A A	ACACACAC others(184): Show ACACACACCACACACCATTCCAAACCATGCTACACACCACACACTACCAC ACCACACACTCCACACCAGAACACACACCATGCCACACCACTCCACACAA CACGCCACACACCATTCCACACCAAACCACACCCCACACACTCCACACCA CACACAACCACTCCATACCAAACCACACACCATACCACACTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp1 HG02723.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0133 a0002c0002t0010g0134 a0002c0002t0010g0133 a0002c0002t0010g0134	2	306	0.0065	191	c.310 others(208): Show c.310-1094_310-1093insGAGTGTGGTATGGTGTGTGGTTTGGTAT GGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGTTTGGTGTGGAA TGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTGTGTGTTCTGGT GTGGAGTGTGTGGTGTGGTAGTGTGTGGTGTGTAGCATGGTTTGGAATGG TGTGTGGTGTGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPR157_chr1_9095305_9134102	9116199	A A	ATATATAT others(184): Show ATATATATTTATATTATATATATTATATATAATATAATTATATATATTTA TATTATATATATTATATATAATATAATTATATATAATTATATTATATATA TTATATTATATATAATTATATATAATTATATTATATATTATATGTAATAT AAATATATATAATTATATTATATATATTATATGTAATATAAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0140 a0001c0001t0056g0140	1	399	0.0025	191	c.384 others(208): Show c.384-4711_384-4710insATTATATTACATATAATATATATAATAT AATTATATATATTTATATTACATATAATATATAATATAATTATATATAAT TATATATAATATAATATATATAATATAATTATATATAATTATATTATATA TAATATATATAATATAAATATATATAATTATATTATATATAATATATATA ATATAAATATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRIK4_chr11_120506748_120993906	120935388	T T	TAAAAATA others(184): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	124	0.0081	191	c.147 others(210): Show c.1477-4947_1477-4946insAATTAGCCGGGCGCGGTGGCAGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAATACAAAA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(184): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	135	0.0074	191	c.-28 others(202): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAC others(184): Show ACACACACATATATATTATATATATATTATATATATATATTATATATATA TTATATATATATTATATATATATTATATATATATTATATATATAATATAT ATATTATATATATATTATATATATATTATATATATAATATATATATATTA TATATATATTATATATATAATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0152 a0002c0013t0001g0152	1	162	0.0062	191	c.912 others(210): Show c.912-34128_912-34127insATATATATATATTATATATATATTAT ATATATAATATATATATAATATATATATATTATATATATAATATATATAT AATATATATATAATATATATATTATATATATAATATATATATAATATATA TATAATATATATATAATATATATATAATATATATATATAATATATATATA ATATATATGTGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653209	C C	CTCCCCCC others(184): Show CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCACCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	285	0.0035	191	c.427 others(208): Show c.427-1069_427-1068insTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCCC CCCTCCTCCACCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(184): Show CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACACAAA CACATACACACGCAGACACACACACACACACACAAACAGTAAATACATCC CGACAGGGACAGACACAGACACACACACAGAGACACACACAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp1 HG01993.hp1 others(9): Show HG01169.hp2 HG01515.hp1 HG01993.hp1 HG01993.hp2 HG02080.hp1 HG02970.hp1 NA18949.hp2 NA18957.hp2 NA18991.hp2 NA18992.hp2 NA19011.hp1 NA19058.hp2	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0002c0029 a0003c0004 others(3): Show a0002c0002 a0002c0029 a0003c0004 a0003c0033 a0003c0034 a0012c0014	a0002c0002t0001 a0002c0029t0003 a0003c0004t0001 others(4): Show a0002c0002t0001 a0002c0029t0003 a0003c0004t0001 a0003c0004t0002 a0003c0033t0001 a0003c0034t0002 a0012c0014t0001	a0002c0002t0001g0069 a0002c0029t0003g0068 a0003c0004t0001g0076 others(8): Show a0002c0002t0001g0069 a0002c0029t0003g0068 a0003c0004t0001g0076 a0003c0004t0001g0083 a0003c0004t0001g0085 a0003c0004t0002g0084 a0003c0004t0002g0090 a0003c0004t0002g0093 a0003c0033t0001g0091 a0003c0034t0002g0088 a0012c0014t0001g0009	12	80	0.1500	191	c.488 others(206): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTG CGTGTGTATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTG TGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GZMM_chr19_539053_554922	540817	G G	GGAGGCCG others(184): Show GGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGT GGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCC AGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATC CGGAGGCCGGGGTGGCCAGGCCCCTGGGTTTAGAATCCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	289	0.0035	191	c.-32 others(202): Show c.-3255_-3254insGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAA TCCGGAGGCCGGGGTGGCCAGGCCCCCCAGGTTTAGAATCCGGAGGCCGG GGTGGCCAGGCCCCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCC CCCAGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCTGGGTTTAGAA TCCTGCT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3235		chr19	TogoVar
HEATR4_chr14_73473484_73563947	73546924	T T	TAAAAATA others(184): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	315	0.0032	191	c.-15 others(212): Show c.-152+11826_-152+11827insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGC TAAATTTTTGTATTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17			chr14	TogoVar
HERC6_chr4_88373852_88448097	88379990	T T	TATATATA others(184): Show TATATATAATATATAAATATATATAATATATAAATATATATAATATATAA ATATATATAATATATAAATATATATAATATATAAATATATATATAATATA TAAATATATATAATATATAAATATATATATAATATATAAATATATATAAT ATATAAATATATATATAATATATAAATATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0149 a0012c0013t0001g0149	1	151	0.0066	191	c.199 others(206): Show c.199+877_199+878insATATATAAATATATATAATATATAAATATA TATAATATATAAATATATATAATATATAAATATATATAATATATAAATAT ATATATAATATATAAATATATATAATATATAAATATATATATAATATATA AATATATATAATATATAAATATATATATAATATATAAATATATATAATAT ATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIVEP1_chr6_12007312_12169999	12167636	T T	TTACATGT others(184): Show TTACATGTATATATACATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATATTAC ATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACAT GTATATATACATGTTATATTACATGTATATATACATGTTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02896.hp1 HG02723.hp2 HG02896.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0168 a0012c0014t0001g0247 a0012c0014t0001g0168 a0012c0014t0001g0247	2	231	0.0087	191	c.31 others(202): Show c.3175_*3176insTACATGTATATATACATGTTATATTACATGTATA TATACATGTTATATTACATGTATATATACATGTTATATTACATGTATATA TACATGTTATATTACATGTATATATACATGTTATATTACATGTATATATA CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA TGTTATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2638		chr6	TogoVar
HMCN1_chr1_185729391_186195949	186005287	A A	AATTTTTT others(184): Show AATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTAT AAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAACAATT TTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAAT GTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0012 a0012	a0012c0053 a0012c0053	a0012c0053t0001 a0012c0053t0001	a0012c0053t0001g0079 a0012c0053t0001g0079	1	87	0.0115	191	c.447 others(210): Show c.4475+1444_4475+1445insTTTTTTAATTGTTTATAAATGTTTAT AAACAATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGT TTATAAATGTTTATAAACAATTTTTTAATTGTTTATAAATGTTTATAAAC AATTTTTTAATTGTTTATAAATGTTTATAAACAATTTTTTAATTGTTTAT AAATGTTTATAAACA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HPGDS_chr4_94293535_94347836	94340843	T T	TTTCTTTT others(184): Show TTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGC CTGGAGTGCAATGGCGTGATCTCGTCTCACCGCAGCCTCTGCCTCCCGGG TTCAAGCGATTCTCCTGCCGCAGCCACCAGAGTAGCTGGGATTACAGGCA CCAACCACCACGCCCGGCCAATTTTTTTCTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01168.hp2 HG03225.hp2 HG00738.hp1 HG01168.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0205 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0205	3	306	0.0098	191	c.-10 others(208): Show c.-10+1951_-10+1952insGAAAAAAAAAAAAGAAAAAAATTGGCCG GGCGTGGTGGTTGGTGCCTGTAATCCCAGCTACTCTGGTGGCTGCGGCAG GAGAATCGCTTGAACCCGGGAGGCAGAGGCTGCGGTGAGACGAGATCACG CCATTGCACTCCAGGCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAA AAAAAAAAAAGAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48824223	C C	CCAGCCTG others(184): Show CCAGCCTGGGCAACAGAGCGAGATTCCATCAAATAAATAAATAAATAAAT AAATAAATAAATGTTAAACATTGAACCACAAGTAAAAGTCAAGAAAAAAA GAAAGAAGGCCAGGTATGGTGGCTCACGCCTGTCATCCTAACACTTTAGG AGGCCAAGGCAGGAAGACAGTTTGAACTCAGGAGTTCAAGAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02145.hp2 others(11): Show HG01433.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02630.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0011 a0001c0001 a0002c0002 a0006c0011	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0006c0011t0001	a0001c0001t0001g0040 a0001c0001t0001g0146 a0001c0001t0001g0158 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0278 a0001c0001t0001g0379 a0001c0001t0001g0380 a0002c0002t0001g0008 a0002c0002t0001g0316 a0002c0002t0001g0324 a0002c0002t0002g0018 a0006c0011t0001g0350	14	125	0.1120	191	c.369 others(208): Show c.369+7444_369+7445insTTCTTGAACTCCTGAGTTCAAACTGTCT TCCTGCCTTGGCCTCCTAAAGTGTTAGGATGACAGGCGTGAGCCACCATA CCTGGCCTTCTTTCTTTTTTTCTTGACTTTTACTTGTGGTTCAATGTTTA ACATTTATTTATTTATTTATTTATTTATTTATTTGATGGAATCTCGCTCT GTTGCCCAGGCTG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HTR2C_chrX_114579086_114915061	114761967	G G	GTGTATAT others(184): Show GTGTATATATACGTGTATATACACATATATGTGTATATATACGTGTATAT ACACATATATGTGTATATATACGTGTATATACACATATATGTGTATATAT ACGTGTATATACACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACTATATATACACATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG02257.hp2 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0011 a0002c0002t0010 a0002c0002t0011	a0002c0002t0010g0003 a0002c0002t0011g0002 a0002c0002t0010g0003 a0002c0002t0011g0002	2	172	0.0116	191	c.349 others(210): Show c.349+30380_349+30381insCACATATATGTGTATATATACGTGTA TATACACATATATGTGTATATATACGTGTATATACACATATATGTGTATA TATACGTGTATATACACATATATGTGTATATATACGTGTATATATACATA TATGTGTATATATACGTGTATATATACTATATATACACATATATATGTAT ATATACGTGTATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761967	G G	GTGTATAT others(184): Show GTGTATATATACGTGTATATACACATATATGTGTATATATACGTGTATAT ACACATATATGTGTATATATACGTGTATATACACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACTATATATACACATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0054 a0002c0002t0005g0054	1	171	0.0058	191	c.349 others(210): Show c.349+30380_349+30381insCACATATATGTGTATATATACGTGTA TATACACATATATGTGTATATATACGTGTATATACACATATATGTGTATA TATACGTGTATATATACATATATGTGTATATATACGTGTATATATACATA TATGTGTATATATACGTGTATATATACTATATATACACATATATATGTAT ATATACGTGTATATA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33323193	A A	ATGTATAT others(184): Show ATGTATATATATGGAATGTATATATGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGGAATGT ATATATGTGGAATGTATATGTGGAATGTATATATGTGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0127 a0001c0001t0041g0127	1	318	0.0031	191	c.-18 others(202): Show c.-1863_-1862insTGTATATATATGGAATGTATATATGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAAT GTATATGTGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATG TGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1776		chr21	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(184): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18954.hp1 NA18952.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0011 a0001c0001t0002g0023	2	323	0.0062	191	c.-86 others(200): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(184): Show TCCTCCCCTTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCT CTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCT CTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	184	0.0054	191	c.670 others(206): Show c.670+637_670+638insCTCCCCTTCTCCCCCCTCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC CTCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCTCTCCCCC TCTCCCCCCTCTCCCCCTCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCC CCTCTCCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(184): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0064 a0001c0002t0007g0064	1	184	0.0054	191	c.670 others(206): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNG1_chr20_50998656_51028107	51007962	G G	GGTGAGTA others(184): Show GGTGAGTACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	422	0.0024	191	c.774 others(208): Show c.774+1602_774+1603insGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTG AGCTGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAGTACTCAC	KCNG1	ENSG00000026559.14	transcript	ENST00000371571.5	protein_coding	2/2			chr20	TogoVar
KCNH1_chr1_210673314_211139148	210718343	T T	TATACATA others(184): Show TATACATATATTTATATATAAATATATGCATATATTTAATGCATAAATAT ATGCATATATTTAATGCATAAATATATGCATATATTTAATACATAAATAT ATGCATATATTTAATACATAAATATATGCATATATTTAATACATAAATAT ATGCATATATTTAATACATAAATATATGCATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0045 a0001c0001t0021g0045	1	157	0.0064	191	c.211 others(212): Show c.2113-34206_2113-34205insGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGCATTAAATATATGCATATATTTATGCATTAAATATATGCATATATTTA TATATAAATATATGTAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63443424	T T	TCACATCA others(184): Show TCACATCACCATCACCACCATCATCACCACCATCACCATCACCATCATCA CCACCACCATCACCATTATCACCACCACCACCATCACCATCACCACCATC ACCACCACCACCACCATCACCATCATCACCACCATCATCACCACCATCAT CACCACCACCATCACCATCACCACCATCACCACCATCATCAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0220 a0001c0002t0066g0220	1	169	0.0059	191	c.691 others(206): Show c.691-894_691-893insGTGATGATGGTGGTGATGGTGGTGATGGTG ATGGTGGTGGTGATGATGGTGGTGATGATGGTGGTGATGATGGTGATGGT GGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGATAATGG TGATGGTGGTGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGGTG ATGGTGATGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45229067	A A	AAGATCCC others(184): Show AAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACC CCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0251 a0001c0001t0134g0251	1	320	0.0031	191	c.64+ others(208): Show c.64+11572_64+11573insCTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGA GTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGG TGGAGAGGGATCT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(184): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGG AACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	60	0.0167	191	c.317 others(208): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGG GAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACG GCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGC GCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(184): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	285	0.0035	191	c.317 others(208): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(184): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	285	0.0035	191	c.317 others(208): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(184): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCG GGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	285	0.0035	191	c.317 others(208): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGC TGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87726258	G G	GCCCGTCT others(184): Show GCCCGTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGC CCGTCTCCCCACCCCGCGCCTCGCCCGTCTCCCCACGCCGCGCCTCGCCC GTCTCCCCACGCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTCGCCCGT CTCCCCACCCCGCGCCTCGCCCGTCTCCCCACCCCGCGCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01069.hp1 others(29): Show HG00099.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01256.hp2 HG01358.hp2 HG01928.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp1 HG03453.hp2 HG03492.hp1 HG03688.hp1 NA18612.hp1 NA18951.hp2 NA18964.hp1 NA18978.hp2 NA18984.hp1 NA18990.hp1 NA19000.hp2 NA19011.hp1 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19079.hp2 NA19086.hp1 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0014 a0001c0033 others(2): Show a0001c0001 a0001c0014 a0001c0033 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0001c0033t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 others(29): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0002g0063 a0001c0001t0002g0197 a0001c0014t0001g0121 a0001c0033t0001g0127 a0002c0002t0001g0211 a0002c0002t0002g0178 a0002c0002t0002g0180 a0002c0002t0002g0181 a0004c0004t0001g0041 a0004c0004t0001g0134	32	279	0.1147	191	c.759 others(206): Show c.759+506_759+507insGAGGCGCGGGGTGGGGAGACGGGCGAGGCG CGGGGTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCG GCGTGGGGAGACGGGCGAGGCGCGGCGTGGGGAGACGGGCGAGGCGCGGG GTGGGGAGACGGGCGAGGCGCGGGGTGGGGAGACGGGCGAGGCGCGGCGT GGGGAGACGGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	7/11			chr16	TogoVar
LAP3_chr4_17572198_17612970	17580184	A A	ATGTGTAT others(184): Show ATGTGTATATATATATATATATATATATATATATATATATATATATATGT GTATATATATATATATATATATATATATATATATACACATATACATATAT ATATATATATACACACACATATACATATATATATATATATACATACACAT ATATATATATATATATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	101	0.0099	191	c.218 others(206): Show c.218+246_218+247insGTGTATATATATATATATATATATATATAT ATATATATATATATATGTGTATATATATATATATATATATATATATATAT ATACACATATACATATATATATATATATACACACACATATACATATATAT ATATATATACATACACATATATATATATATATATATATATATATATATAT ATATATGTATT	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
LHPP_chr10_124456823_124619141	124506890	T T	TGGGGGGT others(184): Show TGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAG GGGGTAGGGAGGATAGCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGGGGT AGGGAGGATAGCAGGTGGAGAGGTAGACAGGATTTCAGGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01361.hp1 HG01123.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0045 a0001c0001t0001g0049	2	196	0.0102	191	c.624 others(208): Show c.624+8785_624+8786insGGGGGGGTAGGGAGGATTTCAGGTAGGG GGTAGGGAGGATAGCAGGTGGAGAGGTAGACAGGATTTCAGGTTGGGGGG TAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTAGGGGGTAG GGAGGATAGCAGGTGGAGAGGTAGACAGGATTTCAGGTGGGGGGGGTAGG GAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(184): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0001 a0005c0026t0001	a0005c0026t0001g0045 a0005c0026t0001g0045	1	88	0.0114	191	c.171 others(208): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGT AAGGCCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar

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