Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FLNA_chrX_154343531_154379634	154377761	GGAGGCTG others(47): Show GGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGCTACAGA GAGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	279	0.0036	-54	c.-34 others(65): Show c.-3426_-3373delGGCTCTCTGTAGCCTCCACCTCCCGGGTTCAAGT GATTCTCCTGTCTCAGCCTC		FLNA	ENSG00000196924.19	transcript	ENST00000369850.10	protein_coding					3128		chrX	TogoVar
FMN1_chr15_32760544_33199714	32777483	TATTTATA others(47): Show TATTTATATATTACGTATAACATATAACACATTTATATATTACGTATAAC ATAAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0026 a0026	a0026c0036 a0026c0036	a0026c0036t0047 a0026c0036t0047	a0026c0036t0047g0079 a0026c0036t0047g0079	1	196	0.0051	-54	c.413 others(71): Show c.4131-618_4131-565delGTTATGTTATACGTAATATATAAATGTG TTATATGTTATACGTAATATATAAAT		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20						chr15	TogoVar
FMN1_chr15_32760544_33199714	32778137	GTATAATA others(47): Show GTATAATATATAATACATTTATTATATATTATATAATACATTTATTTATA TATTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 homoSapiens_chm13v2.hp1 HG03688.hp2 homoSapiens_chm13v2.hp1	a0015 a0018 a0015 a0018	a0015c0025 a0018c0092 a0015c0025 a0018c0092	a0015c0025t0002 a0018c0092t0002 a0015c0025t0002 a0018c0092t0002	a0015c0025t0002g0093 a0018c0092t0002g0074 a0015c0025t0002g0093 a0018c0092t0002g0074	2	196	0.0102	-54	c.413 others(73): Show c.4131-1272_4131-1219delTAATATATAAATAAATGTATTATATA ATATATAATAAATGTATTATATATTATA		FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20						chr15	TogoVar
FNIP1_chr5_131636714_131802017	131785049	CTATATAT others(47): Show CTATATATATCATATATATGATATATATGACATATATATATGATATATAT GACTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0313 a0003c0003t0006g0313	1	328	0.0031	-54	c.92+ others(71): Show c.92+11727_92+11780delTAGTCATATATATCATATATATATGTCA TATATATCATATATATGATATATATA		FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	1/17						chr5	TogoVar
FOXN3_chr14_89151177_89422233	89360732	ACCTCCAG others(47): Show ACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCAC CACCT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0115 a0001c0001t0093g0115	1	230	0.0044	-54	c.544 others(71): Show c.544-9978_544-9925delAGGTGGTGGTGGAGGTGGTAGTGGTGGA GGTGGTGGTGGAGGTGGTGCTGGAGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360937	CCACCACC others(47): Show CCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACTACCACC TCCAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	230	0.0044	-54	c.544 others(73): Show c.544-10183_544-10130delCTGGAGGTGGTAGTGGTGGAGGTGGT GCTGGAGGTGGTGGTGGTGGAGGTGGTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361176	ACCTCCAC others(47): Show ACCTCCACCACCACCACCTCCAGCACCACCACCACCACCTCCACCACCAC CACCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02273.hp1 HG01081.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0093 a0001c0001t0091 a0001c0001t0093	a0001c0001t0091g0129 a0001c0001t0093g0115 a0001c0001t0091g0129 a0001c0001t0093g0115	2	230	0.0087	-54	c.544 others(73): Show c.544-10422_544-10369delAGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGCTGGAGGTGGTGGTGGTGGAGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361195	CCAGCACC others(47): Show CCAGCACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC TCCAG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	230	0.0044	-54	c.544 others(73): Show c.544-10441_544-10388delCTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGCTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361203	ACCACCAC others(47): Show ACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCAC CACCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0037 a0001c0001t0017g0037	1	230	0.0044	-54	c.544 others(73): Show c.544-10449_544-10396delAGGTGGTGCTGGAGGTGGTGGTGGTG GAGGTGGTGGTGGTGGAGGTGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361329	TCCACCAC others(47): Show TCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCAGCACCAC CTCCA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0222 a0001c0001t0016g0222	1	230	0.0044	-54	c.544 others(73): Show c.544-10575_544-10522delTGGAGGTGGTGCTGGAGGTGGTGGTG GAGGTGGTGCTGGAGGTGGTGGTGGTGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361552	ACCTCCAC others(47): Show ACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCAC TACCT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	230	0.0044	-54	c.544 others(73): Show c.544-10798_544-10745delAGGTAGTGCTGGAGGTGGTAGTGGTG GAGGTGGTGGTGGAGGTGGTGGTGGAGG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362314	AGCACCAC others(47): Show AGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTC CTCCT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0151 a0001c0001t0096g0151	1	230	0.0044	-54	c.544 others(73): Show c.544-11560_544-11507delAGGAGGAGGAGGAGGTGGTGGTGGTG CTGGAGGTGGTGGTGGTAGAGGTGGTGC		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FRMD1_chr6_168048095_168084212	168078580	CTGCTCAC others(47): Show CTGCTCACCCCCACGGCTCTGCTCACCCTCACGGCCCTGCTCACCCCCAC AGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01099.hp2 others(11): Show HG00140.hp2 HG00673.hp1 HG01099.hp2 HG01346.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp2 HG02300.hp1 HG02602.hp1 HG02717.hp1 HG03654.hp1 NA18985.hp2 NA19043.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0010 a0002c0003 a0001c0007 a0001c0010 a0002c0003	a0001c0007t0008 a0001c0007t0025 a0001c0007t0061 others(3): Show a0001c0007t0008 a0001c0007t0025 a0001c0007t0061 a0001c0007t0071 a0001c0010t0070 a0002c0003t0062	a0001c0007t0008g0016 a0001c0007t0008g0231 a0001c0007t0008g0232 others(8): Show a0001c0007t0008g0016 a0001c0007t0008g0231 a0001c0007t0008g0232 a0001c0007t0008g0233 a0001c0007t0008g0234 a0001c0007t0008g0236 a0001c0007t0025g0225 a0001c0007t0061g0202 a0001c0007t0071g0238 a0001c0010t0070g0235 a0002c0003t0062g0226	14	402	0.0348	-54	c.213 others(69): Show c.213+248_213+301delAGGCTGTGGGGGTGAGCAGGGCCGTGAGGG TGAGCAGAGCCGTGGGGGTGAGCA		FRMD1	ENSG00000153303.18	transcript	ENST00000283309.11	protein_coding	1/10						chr6	TogoVar
FRMPD3_chrX_107444652_107610251	107601468	CAGCCCCA others(47): Show CAGCCCCAGCTGCCAGCCTCATGGCCACAGCCCCAGCAGCCAGTCTCGAG GTCAG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0014 a0010c0017t0001g0014	1	183	0.0055	-54	c.344 others(63): Show c.3444_3497delGCCTCATGGCCACAGCCCCAGCAGCCAGTCTCGAGG TCAGAGCCCCAGCTGCCA	p.Pro others(15): Show p.Pro1149_Gln1166del	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	15/15	3805/7573	3444/5334	1148/1777		INFO_REALIGN_3_PRIME	chrX	TogoVar
FSCN2_chr17_81523377_81542130	81530580	GTCCTTCC others(47): Show GTCCTTCCAGACCAGCATCAGCTGGGCAAGGAGAGCTCCCCTGTCTCCTG GCAGC	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	432	0.0023	-54	c.826 others(71): Show c.826+1227_826+1280delTTCCAGACCAGCATCAGCTGGGCAAGGA GAGCTCCCCTGTCTCCTGGCAGCTCC		FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
FSTL5_chr4_161378897_162169000	161779759	TTATATAT others(47): Show TTATATATATATATATGTATATATATATATATATATATATATATATATAT ATGTA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	142	0.0070	-54	c.410 others(71): Show c.410-3739_410-3686delTACATATATATATATATATATATATATA TATATATATACATATATATATATATA		FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	4/15						chr4	TogoVar
FUNDC1_chrX_44518639_44547859	44531261	CACACACA others(47): Show CACACACACACACACACACACACACGGCTTTCAGATGAAGATTCATGTTG GCCAG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03491.hp1 NA19030.hp2 HG01123.hp2 HG03491.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0216	3	313	0.0096	-54	c.262 others(71): Show c.262-3950_262-3897delCTGGCCAACATGAATCTTCATCTGAAAG CCGTGTGTGTGTGTGTGTGTGTGTGT		FUNDC1	ENSG00000069509.6	transcript	ENST00000378045.5	protein_coding	3/4						chrX	TogoVar
FUT10_chr8_33365824_33478146	33380163	CTATATAT others(47): Show CTATATATATATACTATATATATATACTATATATATATACTATATATATA TACTA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	268	0.0037	-54	c.121 others(73): Show c.1213-7413_1213-7360delTAGTATATATATATAGTATATATATA TAGTATATATATATAGTATATATATATA		FUT10	ENSG00000172728.16	transcript	ENST00000327671.10	protein_coding	4/4						chr8	TogoVar
FUT8_chr14_65407730_65749121	65611184	TACACACA others(47): Show TACACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACA CACAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG01167.hp1 others(7): Show HG00423.hp1 HG00544.hp1 HG01167.hp1 HG01175.hp1 HG01516.hp1 HG01517.hp1 HG02056.hp1 HG02257.hp1 HG02293.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0024 a0001c0002t0001 a0001c0001t0002 a0001c0001t0024 a0001c0002t0001	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0030 others(7): Show a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0024g0072 a0001c0002t0001g0320	10	374	0.0267	-54	c.204 others(71): Show c.204-4779_204-4726delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACACACACACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611209	GCGCGCGC others(47): Show GCGCGCGCGCGCGCGCACACACACACACACACACACACACACACACACAC ACACA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19002.hp2 NA19082.hp2 HG00673.hp2 NA19002.hp2 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0101 a0001c0001t0001g0133 a0003c0005t0001g0168 a0001c0001t0001g0101 a0001c0001t0001g0133 a0003c0005t0001g0168	3	374	0.0080	-54	c.204 others(71): Show c.204-4767_204-4714delGCGCGCGCGCGCGCACACACACACACAC ACACACACACACACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FUT8_chr14_65407730_65749121	65611211	GCGCGCGC others(47): Show GCGCGCGCGCGCGCACACACACACACACACACACACACACACACACACAC ACACA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02630.hp1 HG02723.hp2 others(3): Show HG01433.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG03540.hp1 HG03831.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0009 a0001c0001 a0002c0004 a0004c0009	a0001c0001t0001 a0002c0004t0001 a0004c0009t0001 a0001c0001t0001 a0002c0004t0001 a0004c0009t0001	a0001c0001t0001g0145 a0001c0001t0001g0368 a0001c0001t0001g0372 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0001g0374 a0002c0004t0001g0229 a0004c0009t0001g0369	6	374	0.0160	-54	c.204 others(71): Show c.204-4765_204-4712delGCGCGCGCGCGCACACACACACACACAC ACACACACACACACACACACACACAC		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
FZD10_chr12_130157464_130170740	130157738	TATATACA others(47): Show TATATACACACACATATATACACACACACATACACACACACATATATACA CACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02109.hp2 HG02451.hp1 others(3): Show HG01175.hp1 HG02109.hp2 HG02451.hp1 HG02809.hp1 HG02965.hp1 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	6	450	0.0133	-54	c.-52 others(65): Show c.-5204_-5151delATATACACACACATATATACACACACACATACAC ACACACATATATACACACAC		FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding					4725		chr12	TogoVar
FZD4_chr11_86940679_86960395	86957830	ACAGGGCC others(47): Show ACAGGGCCTGGCACACAAGGAACATCATTTGTTCTGGGTGAAGGAATACT GTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	456	0.0022	-54	c.-27 others(65): Show c.-2799_-2746delAAAACAGTATTCCTTCACCCAGAACAAATGATGT TCCTTGTGTGCCAGGCCCTG		FZD4	ENSG00000174804.4	transcript	ENST00000531380.2	protein_coding					2436		chr11	TogoVar
GABRA5_chr15_26862062_26954208	26892397	GGGCCCTA others(47): Show GGGCCCTACCCAGCCCGCGCCCCGGGGGCCCAGCAGTGGGGGGGCTGCCT TCCCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02027.hp1 NA18612.hp1 others(9): Show HG00408.hp1 HG02027.hp1 NA18612.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18977.hp1 NA18989.hp1 NA19007.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0174 a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0313 a0001c0002t0001g0071 a0001c0002t0001g0227 a0001c0002t0001g0283 a0001c0002t0001g0331	12	376	0.0319	-54	c.497 others(71): Show c.497+8845_497+8898delCTACCCAGCCCGCGCCCCGGGGGCCCAG CAGTGGGGGGGCTGCCTTCCCCGGCC		GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRP_chr5_170778725_170819047	170799098	AAGGACAT others(47): Show AAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTG TATGT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	362	0.0028	-54	c.541 others(71): Show c.541+1551_541+1604delAGGACATGAACTCATCATTTTTTATGGC TGCATAGTATTCCATGGTGTGTATGT		GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	6/9						chr5	TogoVar
GABRP_chr5_170778725_170819047	170802672	AATACCAT others(47): Show AATACCATCCCCAGTGAGCGGAGGGAGTTTTCTCTGTTCAGCCTCTGTTT CACAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0054 a0001c0009t0011g0054	1	362	0.0028	-54	c.542 others(71): Show c.542-3017_542-2964delTTTTCTCTGTTCAGCCTCTGTTTCACAT ATACCATCCCCAGTGAGCGGAGGGAG		GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRP_chr5_170778725_170819047	170802699	TTTTCTCT others(47): Show TTTTCTCTGTTCAGCCTCTGTTTCACATATACCATCCCCAGTGAGCGGAG GGAGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01243.hp1 others(29): Show HG01069.hp2 HG01071.hp1 HG01243.hp1 HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03831.hp2 HG04199.hp2 HG04204.hp1 NA18906.hp2 NA18945.hp1 NA18952.hp1 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0004 a0002c0008 a0002c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(14): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0031 a0001c0003t0009 a0001c0003t0010 a0001c0003t0016 a0001c0005t0004 a0002c0002t0003 a0002c0004t0003 a0002c0004t0007 a0002c0004t0014 a0002c0004t0035 a0002c0004t0040 a0002c0008t0023 a0002c0018t0021	a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0006g0028 others(22): Show a0001c0001t0001g0170 a0001c0001t0001g0178 a0001c0001t0006g0028 a0001c0001t0006g0066 a0001c0001t0011g0112 a0001c0001t0013g0076 a0001c0001t0031g0176 a0001c0003t0009g0118 a0001c0003t0010g0123 a0001c0003t0016g0125 a0001c0005t0004g0059 a0002c0002t0003g0108 a0002c0004t0003g0026 a0002c0004t0003g0057 a0002c0004t0003g0062 a0002c0004t0007g0019 a0002c0004t0007g0034 a0002c0004t0007g0117 a0002c0004t0014g0020 a0002c0004t0014g0211 a0002c0004t0035g0122 a0002c0004t0040g0212 a0002c0008t0023g0060 a0002c0008t0023g0068 a0002c0018t0021g0192	32	362	0.0884	-54	c.542 others(71): Show c.542-2900_542-2847delTTCAGCCTCTGTTTCACATATACCATCC CCAGTGAGCGGAGGGAGCTTTCTCTG		GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT15_chr3_16169680_16235165	16206571	GCTGAGGC others(47): Show GCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAAC CGAGA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0233 a0001c0001t0012g0234 a0001c0001t0012g0233 a0001c0001t0012g0234	2	388	0.0052	-54	c.912 others(71): Show c.912-1931_912-1878delCTGAGGCAGGAGAATGGCGTGAACCTGG GAGGCGGAGCTTGCAGTGAACCGAGA		GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	3/9						chr3	TogoVar
GALNT16_chr14_69255158_69359466	69353244	TTCAACCT others(47): Show TTCAACCTCACCCTTATTCCCCTCCCCGCTACAGGAGCCCCTAAGTCATT AGGGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0111 a0001c0001t0028g0111	1	306	0.0033	-54	c.11 others(65): Show c.1102_*1155delCGCTACAGGAGCCCCTAAGTCATTAGGGCTCAAC CTCACCCTTATTCCCCTCCC		GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	15/15				1102	INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71701789	ATATGTGT others(47): Show ATATGTGTGTGTGTGTATATATATATACACATATATATACACATATATAT ATGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02040.hp1 NA18983.hp1 HG00738.hp1 HG02040.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016	a0001c0001t0007g0062 a0001c0001t0011g0036 a0001c0001t0016g0043 a0001c0001t0007g0062 a0001c0001t0011g0036 a0001c0001t0016g0043	3	76	0.0395	-54	c.150 others(73): Show c.1501-8968_1501-8915delGTGTGTGTGTGTATATATATATACAC ATATATATACACATATATATATGTGTAT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT9_chr12_132191372_132334589	132203336	TCACCCAC others(47): Show TCACCCACTCACACCTGCACACACAACTGCTTGCACCTGTGCACACCTGT CAACA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0054 a0001c0016t0001g0054	1	183	0.0055	-54	c.126 others(71): Show c.1263+115_1263+168delTGTTGACAGGTGTGCACAGGTGCAAGCA GTTGTGTGTGCAGGTGTGAGTGGGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	7/10						chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172255282	TTTCATTG others(47): Show TTTCATTGACATTTATTTTTTAAATCACTGTGCTGAGAAGTAGACAGAAA AATCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02015.hp1 HG02647.hp2 others(5): Show HG01884.hp1 HG02015.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0003t0005	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0002g0025 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0009g0024 a0001c0002t0002g0007 a0001c0002t0003g0001 a0001c0003t0005g0004	8	40	0.2000	-54	c.247 others(73): Show c.247+25521_247+25574delCATTGACATTTATTTTTTAAATCACT GTGCTGAGAAGTAGACAGAAAAATCATT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77252881	TCACCACC others(47): Show TCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCAC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02572.hp2 NA19088.hp1 HG01952.hp2 HG02572.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0001c0002t0140 a0002c0003t0069 a0001c0002t0004 a0001c0002t0140 a0002c0003t0069	a0001c0002t0004g0189 a0001c0002t0140g0125 a0002c0003t0069g0133 a0001c0002t0004g0189 a0001c0002t0140g0125 a0002c0003t0069g0133	3	366	0.0082	-54	c.666 others(71): Show c.666+1691_666+1744delCCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS7_chr17_9905606_10203606	10068255	GTTTGATC others(47): Show GTTTGATCCTAGGAGAACTTCTGCGGAACCTTTGCTAGAAAGCCCCTGAC CCATT	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0200 a0001c0008t0002g0200	1	218	0.0046	-54	c.184 others(73): Show c.184-48412_184-48359delAATGGGTCAGGGGCTTTCTAGCAAAG GTTCCGCAGAAGTTCTCCTAGGATCAAA		GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	1/13						chr17	TogoVar
GDF2_chr10_47317454_47332588	47328707	TGTGATGT others(47): Show TGTGATGTGCACACTGGGGTGAGTGATGTGTGTGCACCCTGGGGTGAGTG ATGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01109.hp1 HG01192.hp1 others(17): Show HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0003	20	424	0.0472	-54	c.29 others(65): Show c.2924_*2977delGTGATGTGCACACTGGGGTGAGTGATGTGTGTGC ACCCTGGGGTGAGTGATGCG		GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding					1120		chr10	TogoVar
GGT5_chr22_24214660_24250082	24238779	AATATATA others(47): Show AATATATATTATATATTTATATATATATAATATATTATATATATATATAT ATATT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0216 a0001c0003t0001g0216	1	420	0.0024	-54	c.174 others(71): Show c.174-4829_174-4776delAATATATATATATATATATAATATATTA TATATATATAAATATATAATATATAT		GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11						chr22	TogoVar
GGT5_chr22_24214660_24250082	24238811	TATTATAT others(47): Show TATTATATATATATATATATATTTATATATATATATTATATATATTATAT ATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0003 a0003c0010t0003	a0003c0010t0003g0389 a0003c0010t0003g0389	1	420	0.0024	-54	c.174 others(71): Show c.174-4861_174-4808delTATATATATAATATATATAATATATATA TATAAATATATATATATATATATAAT		GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11						chr22	TogoVar
GLIS1_chr1_53501239_53744164	53709349	CATATATA others(47): Show CATATATATACATATACATATATATATACATATATACATATATATACATA TACAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01106.hp2 others(17): Show HG00280.hp2 HG00639.hp1 HG01106.hp2 HG01168.hp1 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02451.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03209.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0019	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0027 a0005c0009 a0007c0008 a0009c0011 a0019c0042	a0001c0001t0001 a0001c0001t0004 a0002c0002t0004 others(12): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0004 a0002c0002t0005 a0003c0003t0001 a0004c0004t0009 a0004c0004t0012 a0004c0027t0003 a0005c0009t0003 a0005c0009t0006 a0005c0009t0008 a0007c0008t0012 a0009c0011t0002 a0009c0011t0010 a0019c0042t0002	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0219 others(17): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0219 a0001c0001t0004g0229 a0002c0002t0004g0130 a0002c0002t0004g0230 a0002c0002t0005g0103 a0003c0003t0001g0147 a0003c0003t0001g0148 a0004c0004t0009g0005 a0004c0004t0012g0003 a0004c0027t0003g0004 a0005c0009t0003g0001 a0005c0009t0003g0031 a0005c0009t0006g0030 a0005c0009t0008g0002 a0007c0008t0012g0021 a0009c0011t0002g0098 a0009c0011t0010g0099 a0019c0042t0002g0157	20	236	0.0848	-54	c.259 others(73): Show c.259+28403_259+28456delATGTATATGTATATATATGTATATAT GTATATATATATGTATATGTATATATAT		GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10						chr1	TogoVar
GLOD4_chr17_754330_787280	768199	AAGAAGAA others(47): Show AAGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCGCGCACTCAGA TTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02965.hp1 others(2): Show HG02572.hp1 HG02615.hp2 HG02965.hp1 HG03041.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298	5	420	0.0119	-54	c.831 others(71): Show c.831+1616_831+1669delAAAAATCTGAGTGCGCGCTGTTTCTCTC TCACACATCCTCTCCAGATTTCTTCT		GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8						chr17	TogoVar
GLP2R_chr17_9820924_9897099	9879254	TATAAAAT others(47): Show TATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAA ATAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02486.hp2 others(6): Show HG02109.hp1 HG02486.hp1 HG02486.hp2 HG03195.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA20300.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0004c0014 others(1): Show a0001c0001 a0004c0005 a0004c0014 a0005c0007	a0001c0001t0001 a0004c0005t0001 a0004c0005t0005 others(2): Show a0001c0001t0001 a0004c0005t0001 a0004c0005t0005 a0004c0014t0005 a0005c0007t0020	a0001c0001t0001g0144 a0004c0005t0001g0362 a0004c0005t0005g0142 others(6): Show a0001c0001t0001g0144 a0004c0005t0001g0362 a0004c0005t0005g0142 a0004c0005t0005g0309 a0004c0005t0005g0355 a0004c0005t0005g0356 a0004c0005t0005g0357 a0004c0014t0005g0358 a0005c0007t0020g0349	9	380	0.0237	-54	c.114 others(73): Show c.1146-1084_1146-1031delATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAA		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLT1D1_chr12_128848478_128989968	128879372	TTTTCTTT others(47): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01934.hp2 HG01993.hp1 others(12): Show HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02129.hp1 HG02615.hp2 HG03453.hp1 NA18612.hp1 NA18942.hp1 NA18949.hp1 NA18951.hp1 NA18968.hp2 NA19000.hp1 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0010 a0001c0001 a0001c0002 a0004c0010	a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0004c0010t0001	a0001c0001t0008g0211 a0001c0002t0001g0051 a0001c0002t0001g0108 others(12): Show a0001c0001t0008g0211 a0001c0002t0001g0051 a0001c0002t0001g0108 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0135 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0152 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0118 a0001c0002t0003g0113 a0004c0010t0001g0109 a0004c0010t0001g0110	15	320	0.0469	-54	c.217 others(71): Show c.217+3318_217+3371delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021902	AGAAGAAG others(47): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18999.hp2 NA18994.hp1 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0321 a0001c0003t0001g0333 a0001c0003t0001g0321 a0001c0003t0001g0333	2	416	0.0048	-54	c.-16 others(71): Show c.-163-465_-163-412delCTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021911	AGAAGAAG others(47): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAG AAGAG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18967.hp2 NA18992.hp1 NA18954.hp1 NA18967.hp2 NA18992.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0314 a0001c0003t0001g0318 a0001c0003t0001g0320 a0001c0003t0001g0314 a0001c0003t0001g0318 a0001c0003t0001g0320	3	416	0.0072	-54	c.-16 others(71): Show c.-163-474_-163-421delCTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GMEB2_chr20_63582605_63632101	63617589	CCCCGGCA others(47): Show CCCCGGCAGCCGCGGCCACGGAGTCACGGCTCGGGTGAGGTGACCTGGAC ACCAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0091 a0001c0004t0004g0091	1	330	0.0030	-54	c.131 others(71): Show c.131+1624_131+1677delATGGTGTCCAGGTCACCTCACCCGAGCC GTGACTCCGTGGCCGCGGCTGCCGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GNAT3_chr7_80453635_80517064	80493592	ATCCTCCT others(47): Show ATCCTCCTCTTTCCTCCTCCTCCTCTTTCCTCTTCCTCCTCCTCTTTCCT CCTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01099.hp1 others(37): Show HG00099.hp2 HG00642.hp2 HG01099.hp1 HG01123.hp1 HG01243.hp2 HG01256.hp1 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02257.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18961.hp1 NA18965.hp2 NA18985.hp1 NA18990.hp1 NA19005.hp2 NA19030.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19088.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0195 others(30): Show a0001c0001t0001g0001 a0001c0001t0001g0053 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0002t0001g0204 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0153 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0293 a0002c0003t0001g0292 a0002c0003t0001g0294	40	334	0.1198	-54	c.161 others(70): Show c.161+959_161+1012delGGAGGAGGAAAGAGGAGGAGGAAGAGGAA AGAGGAGGAGGAGGAAAGAGGAGGA		GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	2/7						chr7	TogoVar
GNAT3_chr7_80453635_80517064	80497622	GTATATAC others(47): Show GTATATACATATACGTATATACATATACGTATATACATATACGTATATAC ATACA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 NA18906.hp2 HG02615.hp2 HG03130.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0293 a0002c0003t0001g0292 a0002c0003t0001g0294 a0001c0002t0002g0293 a0002c0003t0001g0292 a0002c0003t0001g0294	3	334	0.0090	-54	c.119 others(71): Show c.119-3029_119-2976delTGTATGTATATACGTATATGTATATACG TATATGTATATACGTATATGTATATA		GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7						chr7	TogoVar
GNG7_chr19_2506219_2707694	2651282	CTCCATCC others(47): Show CTCCATCCCTCCCTCCCTACCTTCCCTCCATCCCTCCCTCCCTCCCTCCC TACCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp2 HG02451.hp1 others(4): Show HG01167.hp2 HG01243.hp2 HG02451.hp1 HG03209.hp1 HG03579.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0024 a0001c0001t0045 others(4): Show a0001c0001t0018 a0001c0001t0024 a0001c0001t0045 a0001c0001t0050 a0001c0001t0073 a0001c0001t0086 a0001c0001t0095	a0001c0001t0018g0158 a0001c0001t0024g0056 a0001c0001t0045g0004 others(4): Show a0001c0001t0018g0158 a0001c0001t0024g0056 a0001c0001t0045g0004 a0001c0001t0050g0016 a0001c0001t0073g0185 a0001c0001t0086g0005 a0001c0001t0095g0139	7	206	0.0340	-54	c.-13 others(73): Show c.-134-5056_-134-5003delAGGTAGGGAGGGAGGGAGGGAGGGAT GGAGGGAAGGTAGGGAGGGAGGGATGGA		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	AGGATGGG others(47): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGA GGTGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01243.hp1 HG01884.hp1 HG01952.hp2 others(7): Show HG01243.hp1 HG01884.hp1 HG01952.hp2 HG02683.hp1 HG03453.hp1 HG03927.hp1 HG04115.hp2 NA18978.hp1 NA18986.hp2 NA19009.hp1	a0012 a0021 a0022 others(3): Show a0012 a0021 a0022 a0061 a0062 a0063	a0012c0012 a0021c0019 a0022c0020 others(3): Show a0012c0012 a0021c0019 a0022c0020 a0061c0054 a0062c0053 a0063c0052	a0012c0012t0001 a0021c0019t0001 a0022c0020t0008 others(3): Show a0012c0012t0001 a0021c0019t0001 a0022c0020t0008 a0061c0054t0019 a0062c0053t0001 a0063c0052t0010	a0012c0012t0001g0023 a0012c0012t0001g0094 a0021c0019t0001g0024 others(5): Show a0012c0012t0001g0023 a0012c0012t0001g0094 a0021c0019t0001g0024 a0022c0020t0008g0092 a0022c0020t0008g0093 a0061c0054t0019g0046 a0062c0053t0001g0091 a0063c0052t0010g0095	10	204	0.0490	-54	c.93_ others(60): Show c.93_146delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.His others(11): Show p.His32_Pro49del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	93/2007	31/668			chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136660	ATGGGTAG others(47): Show ATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGT GGGGT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00438.hp1 HG00544.hp1 others(73): Show HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01109.hp1 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18986.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19068.hp1 NA19068.hp2 NA20905.hp2	a0001 a0005 a0014 others(3): Show a0001 a0005 a0014 a0028 a0029 a0030	a0001c0001 a0005c0005 a0014c0023 others(3): Show a0001c0001 a0005c0005 a0014c0023 a0028c0069 a0029c0068 a0030c0067	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0005c0005t0004 a0014c0023t0001 a0028c0069t0001 a0029c0068t0001 a0030c0067t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0005g0029 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0132 a0001c0001t0012g0030 a0001c0001t0014g0028 a0001c0001t0020g0127 a0005c0005t0004g0007 a0014c0023t0001g0026 a0028c0069t0001g0120 a0029c0068t0001g0119 a0030c0067t0001g0130	76	204	0.3726	-54	c.18_ others(59): Show c.18_71delACCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCC CACCTCCCTACCCA	p.Gln others(10): Show p.Gln6_Thr23del	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	162/3822	18/2007	6/668			chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22459011	ACCCCACC others(47): Show ACCCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCACCTCCCTA CCCAT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01361.hp2 NA19007.hp1 NA19088.hp1 HG01361.hp2 NA19007.hp1 NA19088.hp1	a0000 a0050 a0000 a0050	a0000c0024 a0050c0064 a0000c0024 a0050c0064	a0000c0024t0001 a0050c0064t0002 a0000c0024t0001 a0050c0064t0002	a0000c0024t0001g0002 a0000c0024t0001g0038 a0050c0064t0002g0001 a0000c0024t0001g0002 a0000c0024t0001g0038 a0050c0064t0002g0001	3	226	0.0133	-54	c.75_ others(60): Show c.75_128delCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.His others(11): Show p.His26_Pro43del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	1/9	166/4401	75/2565	25/854		INFO_REALIGN_3_PRIME	chr15	TogoVar

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