Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GPHN_chr14_66503147_67186803	66683367	T T	TATATATA others(163): Show TATATATATATGTTCATATATATATGTTCATATATATATGTTCATATATA TATGTTCATATATATGTATATGTTCATATATATGTACATATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATA TATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	234	0.0043	170	c.143 others(187): Show c.143+2192_143+2193insGTTCATATATATATGTTCATATATATAT GTTCATATATATATGTTCATATATATGTATATGTTCATATATATGTACAT ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATATGTTCATATATATATGTTCATATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143216198	C C	CTGGCTTG others(163): Show CTGGCTTGGAAAGTGAACTTGCAGCCTTGGATGGGGAAGGGCCAGATGCT GGGTGGGTGCCTGTCACCTTGAGGTGACCATCTAGGGTCAGTACCTGCTG GGCTTAGGACAGCGCCTGAGGCTGGGAATACCTGTCTCTGCTCTAGCAGA GGCTAAAGCAGGCTAGAGCAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	106	0.0094	170	c.68 others(179): Show c.684_*853dupCTTGGAAAGTGAACTTGCAGCCTTGGATGGGGAAGG GCCAGATGCTGGGTGGGTGCCTGTCACCTTGAGGTGACCATCTAGGGTCA GTACCTGCTGGGCTTAGGACAGCGCCTGAGGCTGGGAATACCTGTCTCTG CTCTAGCAGAGGCTAAAGCAGGCTAGAGCAGTGG	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding	4/4	854	INFO_REALIGN_3_PRIME	chr8	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(163): Show AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAA GAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0274 a0001c0001t0029g0274	1	282	0.0036	170	c.375 others(189): Show c.375-23699_375-23698insGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GRHL1_chr2_9946693_10007277	9998679	T T	TACACACA others(163): Show TACACACATATATGTACACATATATATACACACATATATGTACACATATA TATACACACATATATGTACACATATATATACACATATATGTACACATATA TATGTACACATATATGTACACATATATATGTACACATATATGTACACATA TATATGTACACATATATGTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp2 HG02280.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0352 a0001c0001t0007g0354 a0001c0001t0007g0352 a0001c0001t0007g0354	2	418	0.0048	170	c.167 others(187): Show c.1678-283_1678-282insCACATATATGTACACATATATATACACA CATATATGTACACATATATATACACACATATATGTACACATATATATACA CATATATGTACACATATATATGTACACATATATGTACACATATATATGTA CACATATATGTACACATATATATGTACACATATATGTACACA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRM7_chr3_6856115_7746533	7103854	C C	CTCTGTCT others(163): Show CTCTGTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCT CTGTCTCTCTCTCCCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	80	0.0125	170	c.520 others(189): Show c.520-42595_520-42594insGTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCTCTCTCTGTCTCTCTCTCCCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7103854	C C	CTCTGTCT others(163): Show CTCTGTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTCTCTCTGTCTCTCTCTCCCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	80	0.0125	170	c.520 others(189): Show c.520-42595_520-42594insGTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTGTCTCTCT CTCCCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(163): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	290	0.0035	170	c.427 others(187): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP4_chr10_983434_1024932	1010881	T T	TCCCTCCA others(163): Show TCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACT CTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGAC TCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTG GGCCTCTTCATTCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	370	0.0027	170	c.134 others(187): Show c.1344+461_1344+462insCTGCCCCCTACACCACCTTCCCCACCCC GAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCAT CCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GUCY1A2_chr11_106669019_107023476	106710137	T T	TTATATAC others(163): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACTATATGTATATAATATATAGTACATGTATATAATATATAGTTATATA TAATATAGTTATATACATGTATATAATATATAGTTATATATAATAGTTAT ATATATTATATACATGTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp2 HG03579.hp2 HG02109.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0058 a0001c0001t0015g0104 a0001c0001t0015g0107 a0001c0001t0003g0058 a0001c0001t0015g0104 a0001c0001t0015g0107	3	256	0.0117	170	c.183 others(189): Show c.1837-1472_1837-1471insTTATACATGTATATAATATATATAAC TATTATATATAACTATATATTATATACATGTATATAACTATATTATATAT AACTATATATTATATACATGTACTATATATTATATACATATAGTTATATA CATGTATATAATATACATAACTATATGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(163): Show TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0113 a0001c0113	a0001c0113t0006 a0001c0113t0006	a0001c0113t0006g0042 a0001c0113t0006g0042	1	408	0.0025	170	c.633 others(187): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(163): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA TGTTATATTACATGTATATATACATGTTATATTACATGTATATATACATG TTATATTACATGTATATATACATGTTATATTACATGTATATATACATGTT ATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01071.hp2 HG01243.hp2 others(7): Show HG00621.hp2 HG01071.hp2 HG01243.hp2 NA18955.hp2 NA18961.hp2 NA18982.hp2 NA19010.hp2 NA19068.hp1 NA19081.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0032 a0001c0001 a0001c0032	a0001c0001t0001 a0001c0032t0007 a0001c0001t0001 a0001c0032t0007	a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0175 others(7): Show a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0238 a0001c0032t0007g0159	10	344	0.0291	170	c.31 others(181): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATATTAC ATGTATATATACATGTTATATTACATGTATATATACATGTTATATTACAT GTATATATACATGTTATATTACATGTATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
IFI44L_chr1_78615448_78651145	78643143	A A	AGAAAGCA others(163): Show AGAAAGCAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0078 a0002c0002t0078	a0002c0002t0078g0001 a0002c0002t0078g0001	1	430	0.0023	170	c.13 others(181): Show c.1351_*1352insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCGAAAGCAAGAGTTTCTT	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	9/9	1352	INFO_REALIGN_3_PRIME	chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33323520	G G	GTGGAATA others(163): Show GTGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAAT ATATATGTGGAATATATATATATGGAATATATATGTGGAATATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATGTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0127 a0001c0001t0042g0127	1	323	0.0031	170	c.-15 others(181): Show c.-1536_-1535insTGGAATATATATATATGGAATATATATGTGGAAT ATATATATATGGAATATATATGTGGAATATATATATATGGAATATATATG TGGAATATATATATATGGAATATATATGTGGAATATATATATATGGAATA TATATGTGGAATATATATATATGGAATATATGTGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1449		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307445	G G	GTATATAT others(163): Show GTATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01069.hp1 others(25): Show HG00621.hp1 HG00673.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01433.hp1 HG01952.hp1 HG02647.hp1 HG02698.hp1 HG03225.hp1 HG03490.hp1 HG03688.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18959.hp1 NA18966.hp1 NA19000.hp1 NA19007.hp1 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0005g0084 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0017 a0001c0002t0001g0029 a0001c0002t0001g0102	28	141	0.1986	170	c.697 others(189): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ITGB1BP1_chr2_9398475_9428528	9428157	T T	TGGCTAAT others(163): Show TGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01891.hp2 others(9): Show HG01109.hp2 HG01884.hp2 HG01891.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0238	12	276	0.0435	170	c.-48 others(181): Show c.-4821_-4820insGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		4630		chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9428157	T T	TGGCTAAT others(163): Show TGGCTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02717.hp2 HG03098.hp2 others(3): Show HG01496.hp1 HG02717.hp2 HG03098.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0145 a0001c0001t0173 others(3): Show a0001c0001t0042 a0001c0001t0145 a0001c0001t0173 a0001c0001t0184 a0001c0001t0188 a0001c0001t0225	a0001c0001t0042g0206 a0001c0001t0145g0201 a0001c0001t0173g0193 others(3): Show a0001c0001t0042g0206 a0001c0001t0145g0201 a0001c0001t0173g0193 a0001c0001t0184g0202 a0001c0001t0188g0203 a0001c0001t0225g0194	6	276	0.0217	170	c.-48 others(181): Show c.-4821_-4820insGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAATTAGCC	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		4630		chr2	TogoVar
KALRN_chr3_124028369_124731325	124110070	T T	TATATGTC others(163): Show TATATGTCATACTTTGATATATACATGACATATATGTCATACTTTGATAT ATACATGACATATATGTCATACTTTGATATATACATGACATATATGTCAT ACTTTGATATATATGACATATATGTCATACTTTGATATATATGACATATG TCATACTTTGATATATATGAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0040 a0001c0024t0001g0040	1	116	0.0086	170	c.73+ others(187): Show c.73+76279_73+76280insCATGACATATATGTCATACTTTGATATA TACATGACATATATGTCATACTTTGATATATACATGACATATATGTCATA CTTTGATATATATGACATATATGTCATACTTTGATATATATGACATATGT CATACTTTGATATATATGACATATGTCATACTTTGATATATA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KBTBD11_chr8_1968677_2011936	1969152	C C	CATCTATT others(163): Show CATCTATTTTACATGTTTCAGATTTAAAACATCTATTTTACATGTTTCAG ATTTAAAACATCTATTTTACATGTTTCAGATTTAAAACATATATTTTATA TGTTTTAGATTTAAAACATAAATTTATATATAAAATATATATTTATAAAT TTATATATAAAATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp1 others(50): Show HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00738.hp1 HG01070.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02273.hp2 HG02523.hp2 HG02683.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 NA18747.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18984.hp1 NA18992.hp1 NA19003.hp1 NA19012.hp2 NA19063.hp1 NA19074.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0041 a0001c0001t0053 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0020 others(47): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0140 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0001g0355 a0001c0001t0002g0007 a0001c0001t0002g0076 a0001c0001t0002g0324 a0001c0001t0003g0087 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0201 a0001c0001t0003g0348 a0001c0001t0005g0166 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0194 a0001c0001t0005g0266 a0001c0001t0005g0276 a0001c0001t0005g0352 a0001c0001t0007g0243 a0001c0001t0007g0252 a0001c0001t0007g0270 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0010g0008 a0001c0001t0010g0157 a0001c0001t0016g0152 a0001c0001t0017g0123 a0001c0001t0020g0009 a0001c0001t0041g0330 a0001c0001t0053g0172 a0001c0003t0001g0188	53	389	0.1363	170	c.-56 others(181): Show c.-5692_-5691insATCTATTTTACATGTTTCAGATTTAAAACATCTA TTTTACATGTTTCAGATTTAAAACATCTATTTTACATGTTTCAGATTTAA AACATATATTTTATATGTTTTAGATTTAAAACATAAATTTATATATAAAA TATATATTTATAAATTTATATATAAAATATATATTT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4524		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969152	C C	CATCTATT others(163): Show CATCTATTTTACATGTTTCAGATTTAAAACATCTATTTTACATGTTTCAG ATTTAAAACATCTATTTTACATGTTTCAGATTTAAAACATATATTTTATA TGTTTTAGATTTAAAACATAAATTTATATATAAAATATATATTTATAAAT TTATATATAAAATCTATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18974.hp2 NA18962.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0225 a0001c0001t0001g0238	2	389	0.0051	170	c.-56 others(181): Show c.-5692_-5691insATCTATTTTACATGTTTCAGATTTAAAACATCTA TTTTACATGTTTCAGATTTAAAACATCTATTTTACATGTTTCAGATTTAA AACATATATTTTATATGTTTTAGATTTAAAACATAAATTTATATATAAAA TATATATTTATAAATTTATATATAAAATCTATATTT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		4524		chr8	TogoVar
KCNE3_chr11_74449841_74472549	74468521	C C	CTACAAGG others(163): Show CTACAAGGTGGGTATATTGTATATTGTATACAATATACAAGGTGGGTATA TTGTATATTGTATACAATATACAAGGTGGGTATATTGTATATTGTATACA ATATACAAGGTGGGTATATTGTATATTGTATACAATATACAAGGTGGGTA TATTGTATATTGTATACAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0096 a0001c0001t0017g0096	1	446	0.0022	170	c.-13 others(181): Show c.-1314_-1313insTATTGTATACAATATACAATATACCCACCTTGTA TATTGTATACAATATACAATATACCCACCTTGTATATTGTATACAATATA CAATATACCCACCTTGTATATTGTATACAATATACAATATACCCACCTTG TATATTGTATACAATATACAATATACCCACCTTGTA	KCNE3	ENSG00000175538.11	transcript	ENST00000310128.9	protein_coding		973		chr11	TogoVar
KCNG2_chr18_79792938_79905100	79866911	C C	CGAGAGGT others(163): Show CGAGAGGTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAG AGATTTGGGTGCTAAGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAG GTCTCTGTGCTGAGAGGTCTGGGTGCCGAGGTCTGGGTGCTGAGAGGTCT GGGTGCTGAGGCCTGGGTGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	312	0.0032	170	c.624 others(187): Show c.624+2723_624+2724insCTGTGCTGAGAGGTCTGGGTGCCGAGGT CTGGGTGCTGAGAGGTCTGGGTGCTGAGGCCTGGGTGCTGAGAGGTCTGG GTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAGAGATTTGGGTGC TAAGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79866911	C C	CGAGAGGT others(163): Show CGAGAGGTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAG AGATTTGGGTGCTAAGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAG GTCTGTGTGCTGAGAGGTCTGGGTGCCGAGGTCTGGGTGCTGAGAGGTCT GGGTGCTGAGGCCTGGGTGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(89): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp2 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG03017.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18997.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19065.hp1 NA19067.hp2 NA19080.hp2 NA19089.hp1 NA20805.hp1 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0009 a0001c0011 others(4): Show a0001c0001 a0001c0009 a0001c0011 a0003c0006 a0004c0008 a0005c0010 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0009t0001 a0001c0011t0001 a0003c0006t0001 a0004c0008t0004 a0005c0010t0001 a0006c0012t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0002g0181 a0001c0001t0002g0202 a0001c0001t0003g0129 a0001c0001t0003g0256 a0001c0001t0003g0273 a0001c0001t0008g0125 a0001c0009t0001g0163 a0001c0011t0001g0078 a0003c0006t0001g0004 a0003c0006t0001g0041 a0003c0006t0001g0071 a0003c0006t0001g0201 a0004c0008t0004g0016 a0005c0010t0001g0262 a0006c0012t0002g0005	92	312	0.2949	170	c.624 others(187): Show c.624+2664_624+2833dupTCTCAGAGATTTGGGTGCTAAGAGGCCT GGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGG GTGCCGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGGCCTGGGTGCTG AGAGGTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79866911	C C	CGAGAGGT others(163): Show CGAGAGGTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAG AGATTTGGGTGCTAAGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAG GTCTGTTTGCTGAGAGGTCTGGGTGCCGAGGTCTGGGTGCTGAGAGGTCT GGGTGCTGAGGCCTGGGTGCT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	312	0.0032	170	c.624 others(187): Show c.624+2725_624+2726insTTGCTGAGAGGTCTGGGTGCCGAGGTCT GGGTGCTGAGAGGTCTGGGTGCTGAGGCCTGGGTGCTGAGAGGTCTGGGT GCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAGAGATTTGGGTGCTA AGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79867087	G G	GTCTGGGT others(163): Show GTCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGTTCTCAGAGATTT GGGTGCTAAGAGGCCTGGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGT GTGCTGAGAGGTCTGGGTGCCGAGGTCTGGGTGCTGAGAGGTCTGGGTGC TGAGGCCTGGGTGCTGAGAGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0042 a0004c0008t0001g0042	1	312	0.0032	170	c.624 others(187): Show c.624+2833_624+2834insTCTCAGAGATTTGGGTGCTAAGAGGCCT GGGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGTGTGCTGAGAGGTCTGG GTGCCGAGGTCTGGGTGCTGAGAGGTCTGGGTGCTGAGGCCTGGGTGCTG AGAGATCTGGGTGCTGAGGTCTGGGTGCTGAGAGGTCTGTGT	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNMB2_chr3_178531436_178849429	178758593	G G	GATATATA others(163): Show GATATATATATATATATATATATATCCAAGGGGATATATATATATATATA TATATATCCAAGGGGATATATATATATATATATATATATCCAAGGGGATA TATATATATATATATATATATCCAAGGGGATATATATATATATATATATA TATCCAAGGGGATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	232	0.0043	170	c.-67 others(189): Show c.-67-48749_-67-48748insTATATATATATATATATATATATCCA AGGGGATATATATATATATATATATATATCCAAGGGGATATATATATATA TATATATATATCCAAGGGGATATATATATATATATATATATATCCAAGGG GATATATATATATATATATATATATCCAAGGGGATATATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM6A_chrX_44868188_45117779	45040355	G G	GCGCCCCT others(163): Show GCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCGCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	199	0.0050	170	c.654 others(187): Show c.654+2667_654+2668insGCCCCTCACCTCCCGGACGGGGCGGCCG GCCGGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGCT GGCCGACCGCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCC	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(163): Show ATATATATATAATATATAATATATATAATAAAAATATATATTTTATATAT ATAATATATATAATAAAAATATATATTTTATATATATAATATATAATATA TATAATAAAAATATATATTTTATATATATAATATATAATATATATAATAA AAATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0093 a0001c0002t0036g0093	1	406	0.0025	170	c.199 others(187): Show c.199-1226_199-1225insATATATATAAAATATATATTTTTATTAT ATATATTATATATTATATATATAAAATATATATTTTTATTATATATATTA TATATTATATATATAAAATATATATTTTTATTATATATATTATATATATA AAATATATATTTTTATTATATATATTATATATTATATATATA	KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9			chr18	TogoVar
KIAA0930_chr22_45187244_45245894	45228896	C C	CCAACCAC others(163): Show CCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACCACC AAACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCA CCTGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGA TCCCTCTCCACCCCCCAACCA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0348 a0001c0001t0039g0348	1	398	0.0025	170	c.64+ others(187): Show c.64+11743_64+11744insTGGTTGGGGGGTGGAGAGGGATCTCTCG GGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGT TTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTT GGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240779358	T T	TCATCGTT others(163): Show TCATCGTTCCACACTCAGGTCCTCACTCACTTCCTCACTCAGCTCCTCAT AGTTCCACACTCAGTTCCTCACTCAGTTCCTCACTCAGTTCCACACTCAG TTCCACACTCAGTTCCTCACAGTTCCACACTCAGTTCCTCATAGTTCCAC TCAGTTCCTCACTCAGTTCCA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18963.hp2 NA18993.hp1 others(1): Show NA18939.hp2 NA18963.hp2 NA18993.hp1 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0021	a0001c0004t0001g0071 a0001c0004t0002g0073 a0001c0004t0002g0074 others(1): Show a0001c0004t0001g0071 a0001c0004t0002g0073 a0001c0004t0002g0074 a0001c0004t0021g0072	4	330	0.0121	170	c.882 others(187): Show c.882+3231_882+3232insTGGAACTGAGTGAGGAACTGAGTGGAAC TATGAGGAACTGAGTGTGGAACTGTGAGGAACTGAGTGTGGAACTGAGTG TGGAACTGAGTGAGGAACTGAGTGAGGAACTGAGTGTGGAACTATGAGGA GCTGAGTGAGGAAGTGAGTGAGGACCTGAGTGTGGAACGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(163): Show GCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGA GGGTAGGGGCCACCATCAGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0148 a0001c0004t0025g0148	1	330	0.0030	170	c.430 others(185): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGG CCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACT CAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(163): Show GCCCCTGAGTGAGGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGG GTGGGGGCCAGTATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGA GGGTAGGGGCCACCATCAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0078 a0001c0007t0008g0078	1	330	0.0030	170	c.430 others(185): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGG CCCCTACCCTCTCACTCAGGGGTCCTGATACTGGCCCCCACCCTCTCACT CAGGGGTCCTGATGGCGTCCCCCACCCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGACCCC others(163): Show AGGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA TCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTG AGGGGGTGGGGGCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0325 a0001c0004t0001g0325	1	330	0.0030	170	c.430 others(185): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCC CTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAG GGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(163): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCG GGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCG GGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0357 a0003c0004t0005g0357	1	375	0.0027	170	c.317 others(187): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCG GGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGG others(163): Show AGGCGGGGGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0325 a0001c0001t0035g0325	1	375	0.0027	170	c.317 others(187): Show c.317+1419_317+1420insGGGGAACGGCGCTGCGGGGGGGGGCGGG AACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGG AACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGG	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(163): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGG GGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGACGCTGCGGGGG GGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	375	0.0027	170	c.317 others(187): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGACGCTGCG GGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHDC4_chr16_87702812_87770986	87706222	C C	CGGGGGGG others(163): Show CGGGGGGGGGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGG GGGTCAGCGTAATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGGTCAGC GTAATGCAAACACAAGCTGCAGCCCTCGGGGGGGGGGTCAGCGTAATGCA AACACAAGCTGCAGCCCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0340 a0002c0002t0001g0340	1	380	0.0026	170	c.18 others(181): Show c.1854_*1855insCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGA CCCCCCCCCCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGACCCCCCCC CCGAGGGCTGCAGCTTGTGTTTGCATTACGCTGACCCCCCCCCCGAGGGC TGCAGCTTGTGTTTGCATTACGCTGACCCCCCCCCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		1589		chr16	TogoVar
KREMEN1_chr22_29068035_29151820	29120035	A A	AGGAGAGG others(163): Show AGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAT GGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAATGGAGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp1 HG01109.hp1 others(9): Show HG00099.hp2 HG01069.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01928.hp2 HG01978.hp1 HG02300.hp1 HG02698.hp1 HG03239.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0027 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0027 a0003c0006t0007 a0003c0006t0045	a0001c0001t0001g0079 a0001c0002t0001g0005 a0001c0002t0001g0025 others(8): Show a0001c0001t0001g0079 a0001c0002t0001g0005 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0027g0032 a0001c0002t0027g0036 a0001c0002t0027g0074 a0003c0006t0007g0030 a0003c0006t0045g0075	12	368	0.0326	170	c.353 others(187): Show c.353-1309_353-1308insAGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAATGGAGGAAGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGG AGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(163): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGG ACGGGTGGGTTCAGAGGACGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTG GAGGGGTAGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTGGGGCCAGT GGAGGGGTGGGGCCAGTGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0081 a0002c0081	a0002c0081t0001 a0002c0081t0001	a0002c0081t0001g0087 a0002c0081t0001g0087	1	186	0.0054	170	c.649 others(187): Show c.6497-525_6497-524insCTCCACTGGCCCCACCCCTCCACTGGCC CCACCCCTCCACTGACCCCACCCCTCCACTGACCCTACCCCTCCACTGAC CCCACCCCTCCACTGACCCCACCCGTCCTCTGAACCCACCCGTCCTCTGA ACCCACCCGTCCTCTGAACCCACCCGTCCTCTGAACCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321452	T T	TGGGGTCA others(163): Show TGGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGG GTAGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGGGTGGGGCCAGTGGAGG GGTGGGGCCAGTGGAGGGGTGGGGCCAGTGGAGGGGTGGGGCCAGTGGAG GGGCGGGGCCAGTGGGGAGGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0051 a0051	a0051c0117 a0051c0117	a0051c0117t0001 a0051c0117t0001	a0051c0117t0001g0072 a0051c0117t0001g0072	1	186	0.0054	170	c.649 others(187): Show c.6497-563_6497-562insGCCTCCCCACTGGCCCCGCCCCTCCACT GGCCCCACCCCTCCACTGGCCCCACCCCTCCACTGGCCCCACCCCTCCAC TGGCCCCACCCCTCCACTGACCCTACCCCTCCACTGACCCTACCCCTCCA CTGACCCTACCCCTCCACTGACCCTACCCCTCCACTGACCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LATS2_chr13_20968036_21066586	20977644	A A	AAGATGGT others(163): Show AAGATGGTAAATTTTAATTTACCATTAAAATAATTAGATGGTAAATTTTA ATTTACCATTAAAATAATTAGATGGTAAATTTTAATTTACCATTAAAATA ATTAGATGGTAAATTTTAATTTACCATTAAAATAATTAGATGGTAAATTT TAATTTACCATTAAAATAATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA18956.hp2 NA19030.hp1 HG01243.hp1 NA18956.hp2 NA19030.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0019 a0002c0002 a0004c0019	a0002c0002t0012 a0004c0019t0020 a0002c0002t0012 a0004c0019t0020	a0002c0002t0012g0182 a0004c0019t0020g0305 a0004c0019t0020g0306 a0002c0002t0012g0182 a0004c0019t0020g0305 a0004c0019t0020g0306	3	316	0.0095	170	c.277 others(189): Show c.2772+2046_2772+2047insAATTATTTTAATGGTAAATTAAAATT TACCATCTAATTATTTTAATGGTAAATTAAAATTTACCATCTAATTATTT TAATGGTAAATTAAAATTTACCATCTAATTATTTTAATGGTAAATTAAAA TTTACCATCTAATTATTTTAATGGTAAATTAAAATTTACCATCT	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	7/7			chr13	TogoVar
LDB2_chr4_16496541_16903645	16739711	T T	TACATATA others(163): Show TACATATATGTATATATACATATATATATACATATATGTATATATATACA TATATATACATATATGTATATATACATATATATATACATATATATATACA TATATGTATATATATACATATATATACATATATGTATATATATACATATA TATACATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	162	0.0062	170	c.235 others(189): Show c.235+19446_235+19447insGTATATATACATATATGTATATATAT GTATATATATACATATATGTATATATATGTATATATATACATATATGTAT ATATATATGTATATATATATGTATATATACATATATGTATATATATGTAT ATATATACATATATGTATATATATATGTATATATACATATATGT	LDB2	ENSG00000169744.13	transcript	ENST00000304523.10	protein_coding	2/7			chr4	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTTT others(163): Show ATATTTTTATATGTATATATATATATTTATATATGTATTTATATATATTT ATATATATTTATATATAAATATAAATATATTTATAAATAAATATAAATAT ATTTATATATATTTATATATTTATGTATATTTATATATATTTATATATAT ATTTATGTATATTTATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01069.hp1 HG01071.hp2 others(5): Show HG00408.hp2 HG01069.hp1 HG01071.hp2 NA18942.hp1 NA18954.hp1 NA18990.hp2 NA19068.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0216 a0001c0001t0004g0112 a0001c0001t0004g0113	8	260	0.0308	170	c.125 others(187): Show c.125+9673_125+9674insTTTTATATGTATATATATATATTTATAT ATGTATTTATATATATTTATATATATTTATATATAAATATAAATATATTT ATAAATAAATATAAATATATTTATATATATTTATATATTTATGTATATTT ATATATATTTATATATATATTTATGTATATTTATATATGTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507022	C C	CAGGATTT others(163): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTTGGGGGGTAGACAGG ATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGGGGGTAGACAGGA TTTCAGGTGAGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	260	0.0039	170	c.624 others(187): Show c.624+8907_624+8908insGGGGGGTAGGGAGGATTTCAGGTGGGCG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTTGGGGGG TAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGGGGGT AGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507185	G G	GGGTAGAC others(163): Show GGGTAGACAGGATTTCAGGTGGGGGGTGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGGGGGGT AGGGAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	260	0.0039	170	c.624 others(187): Show c.624+9059_624+9060insTAGACAGGATTTCAGGTGGGGGGTGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507685	C C	CAGGATTT others(163): Show CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGTGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGG ATTTCAGGTGGGGGGGTAGGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	260	0.0039	170	c.625 others(187): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTCGGTG GGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGG TAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIN28B_chr6_104952107_105088332	105023528	T T	TTATATAT others(163): Show TTATATATATATTATATAATATATATAATTATATTATATATATATTATAT AATATATATAATATATATAAAATATATATAATATATAACCTATATATATT ATATATTATATATAATATATATTATATATTTTATATATTTTATATATATA ATATATATTATATATTTTATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	278	0.0036	170	c.199 others(187): Show c.199-2764_199-2763insTATATTATATAATATATATAATTATATT ATATATATATTATATAATATATATAATATATATAAAATATATATAATATA TAACCTATATATATTATATATTATATATAATATATATTATATATTTTATA TATTTTATATATATAATATATATTATATATTTTATATATATA	LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(163): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCC TCCCACCCTAGGCCCCCGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02109.hp2 HG02486.hp2 others(2): Show HG00140.hp2 HG02109.hp2 HG02486.hp2 HG02970.hp1 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0014 a0001c0001 a0001c0002 a0003c0014	a0001c0001t0001 a0001c0002t0001 a0003c0014t0001 a0001c0001t0001 a0001c0002t0001 a0003c0014t0001	a0001c0001t0001g0024 a0001c0002t0001g0021 a0001c0002t0001g0288 others(2): Show a0001c0001t0001g0024 a0001c0002t0001g0021 a0001c0002t0001g0288 a0003c0014t0001g0015 a0003c0014t0001g0016	5	294	0.0170	170	c.729 others(187): Show c.729+6292_729+6461dupCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGC CTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGC CTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(163): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATATCATATATATAATATATATTA TATTATATATATATCATATATATAATATATATTATATTATATATATATCA TATATATAATATATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00741.hp2 others(4): Show HG00099.hp1 HG00323.hp1 HG00741.hp2 HG01358.hp1 HG02027.hp1 HG02615.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0001 a0005c0005t0001g0006 a0001c0001t0001g0001 a0005c0005t0001g0006	7	313	0.0224	170	c.-30 others(181): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA ATATAATATATATTATATATATGATATATATATAATATAATATATATTAT ATATATGATATATATATAATATAATATATATTATATATATGATATATATA TAATATAATATATATTATATATATGATATATATATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LRCOL1_chr12_132598151_132615582	132598423	T T	TCCTCTCC others(163): Show TCCTCTCCGCGCGCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCG CCCCGCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCGCCTCC TCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCC CCGCCTCCTCTCCGCGCGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02896.hp1 HG02897.hp1 others(3): Show HG01934.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0017 a0001c0001t0002g0008 a0002c0002t0002g0029 others(1): Show a0001c0001t0001g0017 a0001c0001t0002g0008 a0002c0002t0002g0029 a0003c0003t0001g0006	6	390	0.0154	170	c.49 others(181): Show c.4978_*4979insGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAG GAGGCGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGCGGGGCGC GCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGA GGCGGGGCGCGCGGAGAGGAGGGGCGCGCGGAGAGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4727		chr12	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(163): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19066.hp1 NA19066.hp2 NA19009.hp2 NA19066.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0118 a0001c0001t0001g0142 a0001c0001t0001g0148	3	220	0.0136	170	c.133 others(187): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar