Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific 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
BAZ1A_chr14_34747731_34880360	34832228	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	380	0.0026	28	c.393 others(45): Show c.393-6073_393-6072insCATATATATATATATATATATATATATA	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ2A_chr12_56590596_56635326	56597637	G G	GACACACA others(21): Show GACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp1 HG06807.hp1 HG02559.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0019 a0001c0002t0034g0019	2	316	0.0063	28	c.95 others(37): Show c.953_*980dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	980		chr12	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0008 a0006c0005t0008	a0006c0005t0008g0380 a0006c0005t0008g0380	1	386	0.0026	28	c.495 others(45): Show c.495+1414_495+1441dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27043393	C C	CTGGGGTA others(21): Show CTGGGGTACATGTGCAGAATGTGCAGGTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG01243.hp2 others(14): Show HG00639.hp1 HG01123.hp2 HG01243.hp2 HG01496.hp1 HG02723.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0124 a0001c0002t0001g0003 a0001c0002t0001g0057 others(12): Show a0001c0001t0001g0124 a0001c0002t0001g0003 a0001c0002t0001g0057 a0001c0002t0001g0121 a0001c0002t0001g0130 a0001c0002t0004g0120 a0001c0002t0004g0122 a0001c0002t0004g0123 a0001c0002t0004g0125 a0001c0002t0004g0126 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0129 a0001c0002t0004g0131 a0001c0002t0004g0132	17	318	0.0535	28	c.-39 others(45): Show c.-39+1939_-39+1940insGGTTTGGGGTACATGTGCAGAATGTGCA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BBOX1_chr11_27035815_27132809	27057063	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01109.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	318	0.0063	28	c.220 others(43): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(21): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19076.hp1 NA19057.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0145 a0001c0001t0001g0028 a0001c0001t0001g0145	2	398	0.0050	28	c.44 others(39): Show c.4408_*4409insTTTTTTTTTTTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS4_chr15_72681207_72743473	72725812	C C	CCCCCATC others(21): Show CCCCCATCCCCCTTTCCCCATCCCCCTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	398	0.0025	28	c.587 others(45): Show c.587+1241_587+1268dupTCCCCATCCCCCTTTCCCCATCCCCCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01884.hp1 others(2): Show HG01070.hp1 HG01099.hp1 HG01884.hp1 HG02615.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0020 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0020 a0001c0001t0046	a0001c0001t0002g0006 a0001c0001t0002g0189 a0001c0001t0014g0030 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0189 a0001c0001t0014g0030 a0001c0001t0020g0098 a0001c0001t0046g0213	5	222	0.0225	28	c.220 others(45): Show c.2203+502_2203+503insTATATATATATATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02074.hp2 others(14): Show HG01109.hp2 HG01346.hp2 HG02074.hp2 HG02145.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02895.hp1 HG03017.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA18973.hp1 NA19001.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0023 a0001c0001t0027 a0007c0009t0007	a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0057 others(14): Show a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0168 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0007g0067 a0001c0001t0007g0205 a0001c0001t0011g0185 a0001c0001t0015g0037 a0001c0001t0023g0102 a0001c0001t0027g0097 a0007c0009t0007g0068	17	222	0.0766	28	c.235 others(47): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATA TA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797364	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp1 HG02055.hp1 others(2): Show HG01192.hp2 HG01496.hp1 HG02055.hp1 HG02257.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0036 a0001c0001t0005 a0001c0001t0006 a0001c0001t0036	a0001c0001t0005g0019 a0001c0001t0006g0046 a0001c0001t0006g0096 others(2): Show a0001c0001t0005g0019 a0001c0001t0006g0046 a0001c0001t0006g0096 a0001c0001t0006g0151 a0001c0001t0036g0174	5	222	0.0225	28	c.235 others(47): Show c.2354-1159_2354-1158insTATATATATATATATATATATATATA TG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0247 a0001c0001t0016g0247	1	398	0.0025	28	c.194 others(45): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(21): Show ACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01099.hp2 others(7): Show HG00741.hp1 HG00741.hp2 HG01099.hp2 HG02055.hp2 HG02809.hp1 HG03209.hp1 HG03209.hp2 HG03540.hp2 NA18977.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0015g0164	10	398	0.0251	28	c.194 others(45): Show c.194-2298_194-2297insACACACACACACACACACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02040.hp2 HG02970.hp2 others(2): Show HG00741.hp1 HG02040.hp2 HG02970.hp2 HG03492.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0012 a0016	a0001c0001 a0006c0006 a0007c0008 others(2): Show a0001c0001 a0006c0006 a0007c0008 a0012c0031 a0016c0019	a0001c0001t0003 a0006c0006t0066 a0007c0008t0010 others(2): Show a0001c0001t0003 a0006c0006t0066 a0007c0008t0010 a0012c0031t0005 a0016c0019t0033	a0001c0001t0003g0165 a0006c0006t0066g0172 a0007c0008t0010g0185 others(2): Show a0001c0001t0003g0165 a0006c0006t0066g0172 a0007c0008t0010g0185 a0012c0031t0005g0043 a0016c0019t0033g0083	5	364	0.0137	28	c.143 others(47): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS3_chr17_60672851_61397831	60802371	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0018 a0002c0005t0001g0018	1	74	0.0135	28	c.404 others(45): Show c.404-5615_404-5614insATATATATATATATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	74	0.0135	28	c.122 others(49): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(21): Show GTGTGTGTGCGCGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	74	0.0135	28	c.259 others(47): Show c.2593+6760_2593+6761insCGCGCGCGCGCGCGCGCACATGTGTG TG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGCGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03579.hp1 HG01952.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0001 a0001c0002 a0003c0001	a0001c0002t0002 a0003c0001t0001 a0001c0002t0002 a0003c0001t0001	a0001c0002t0002g0057 a0003c0001t0001g0028 a0001c0002t0002g0057 a0003c0001t0001g0028	2	74	0.0270	28	c.259 others(47): Show c.2593+6761_2593+6762insGTGCGCGCGCGCGCGCACATGTGTGT GT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375247	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0007 a0003c0001t0001g0007	1	74	0.0135	28	c.259 others(47): Show c.2593+6761_2593+6762insGTGTGCGCGCGCGCGCGCACGTGTGT GT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS4_chr20_50790061_50882177	50859549	A A	AAGAGGGC others(21): Show AAGAGGGCCTGGGGACAAGGAGTTCAGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG01256.hp1 others(48): Show HG00423.hp2 HG01106.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA19030.hp2 NA19056.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0005t0002 a0005c0007t0002	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 others(48): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0122 a0001c0001t0002g0137 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0261 a0001c0001t0002g0270 a0001c0001t0003g0203 a0001c0001t0003g0219 a0001c0001t0004g0098 a0001c0001t0004g0172 a0001c0001t0004g0195 a0001c0001t0004g0235 a0001c0001t0005g0214 a0001c0001t0010g0003 a0001c0003t0001g0133 a0001c0004t0001g0012 a0001c0004t0004g0007 a0002c0002t0001g0047 a0002c0002t0001g0069 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0041 a0002c0002t0002g0051 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0003g0057 a0002c0002t0003g0066 a0003c0005t0002g0128 a0005c0007t0002g0150	51	270	0.1889	28	c.400 others(47): Show c.400-16935_400-16934insAGGGCCTGGGGACAAGGAGTTCAGGC AG	BCAS4	ENSG00000124243.19	transcript	ENST00000371608.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01261.hp2 HG02602.hp2 others(5): Show HG01071.hp1 HG01261.hp2 HG02602.hp2 HG02738.hp2 HG03540.hp2 NA18959.hp2 NA18967.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0033 a0001c0001t0056 a0001c0001t0105 a0001c0001t0107 a0001c0001t0120	a0001c0001t0001g0019 a0001c0001t0001g0168 a0001c0001t0003g0191 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0168 a0001c0001t0003g0191 a0001c0001t0033g0272 a0001c0001t0056g0190 a0001c0001t0105g0150 a0001c0001t0107g0213 a0001c0001t0120g0152	8	322	0.0248	28	c.6+1 others(43): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCKDK_chr16_31103386_31117791	31117369	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	300	0.0033	28	c.51 others(39): Show c.5104_*5105insAAATAAATAAATAAATAAATAAATAAAT	BCKDK	ENSG00000103507.14	transcript	ENST00000219794.11	protein_coding		4579		chr16	TogoVar
BCL11B_chr14_99164287_99277197	99199683	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02630.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0068 a0001c0004t0001 a0001c0002t0068 a0001c0004t0001	a0001c0002t0068g0170 a0001c0004t0001g0001 a0001c0004t0001g0179 a0001c0002t0068g0170 a0001c0004t0001g0001 a0001c0004t0001g0179	4	350	0.0114	28	c.641 others(47): Show c.641-23489_641-23488insGCGCGCGCGCACACACACACACACAC AC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99217385	G G	GACACACA others(21): Show GACACACACACACATACAGACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG02071.hp1 others(7): Show HG00423.hp2 HG02056.hp1 HG02071.hp1 NA18948.hp2 NA18952.hp2 NA18970.hp1 NA19058.hp1 NA19066.hp1 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0028 a0001c0002t0057	a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0266 others(7): Show a0001c0001t0001g0164 a0001c0001t0001g0224 a0001c0001t0001g0266 a0001c0001t0002g0097 a0001c0002t0001g0237 a0001c0002t0003g0265 a0001c0002t0021g0139 a0001c0002t0021g0140 a0001c0002t0028g0293 a0001c0002t0057g0141	10	350	0.0286	28	c.640 others(47): Show c.640+13959_640+13960insGTGTGTGTGTCTGTATGTGTGTGTGT GT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL11B_chr14_99164287_99277197	99222836	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0067 a0001c0002t0067	a0001c0002t0067g0177 a0001c0002t0067g0177	1	350	0.0029	28	c.640 others(45): Show c.640+8508_640+8509insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L10_chr15_52104263_52117775	52111173	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02965.hp1 HG02970.hp2 others(1): Show HG01981.hp1 HG02965.hp1 HG02970.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0011	a0002c0002t0002g0070 a0002c0002t0003g0097 a0002c0002t0006g0092 others(1): Show a0002c0002t0002g0070 a0002c0002t0003g0097 a0002c0002t0006g0092 a0002c0002t0011g0071	4	458	0.0087	28	c.489 others(45): Show c.489+1037_489+1064dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/1			chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0023 a0002c0002t0003g0023	1	458	0.0022	28	c.-43 others(39): Show c.-4377_-4376insAATATATATATATATATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0094 a0002c0002t0003g0094	1	458	0.0022	28	c.-43 others(39): Show c.-4377_-4376insAAAAAAAAAAAAAAAATATATATATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG03486.hp1 NA19078.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0028 a0001c0001t0034 a0001c0001t0040 a0001c0002t0012 a0001c0002t0027	a0001c0001t0002g0116 a0001c0001t0002g0172 a0001c0001t0002g0188 others(11): Show a0001c0001t0002g0116 a0001c0001t0002g0172 a0001c0001t0002g0188 a0001c0001t0004g0163 a0001c0001t0004g0192 a0001c0001t0004g0202 a0001c0001t0005g0007 a0001c0001t0006g0070 a0001c0001t0007g0096 a0001c0001t0028g0302 a0001c0001t0034g0181 a0001c0001t0040g0187 a0001c0002t0012g0003 a0001c0002t0027g0076	14	306	0.0458	28	c.601 others(45): Show c.601-6522_601-6495dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L1_chr20_31659458_31727868	31697892	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTGTTTGTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	186	0.0054	28	c.564 others(47): Show c.564+23762_564+23763insAAAACAAACAAACAAAAAAAAAAAAA AA	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2_chr18_63118346_63324769	63169336	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01169.hp2 others(8): Show HG00099.hp1 HG01168.hp2 HG01169.hp2 HG02486.hp2 HG02922.hp1 HG03225.hp1 HG03490.hp2 HG03492.hp2 NA18945.hp1 NA19002.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0023 a0001c0001t0057 a0001c0002t0002 a0001c0002t0009	a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0003g0114 others(8): Show a0001c0001t0001g0110 a0001c0001t0002g0018 a0001c0001t0003g0114 a0001c0001t0003g0194 a0001c0001t0023g0258 a0001c0001t0023g0259 a0001c0001t0057g0253 a0001c0002t0002g0046 a0001c0002t0002g0084 a0001c0002t0009g0088 a0001c0002t0009g0089	11	264	0.0417	28	c.586 others(47): Show c.586-40605_586-40578dupAAAGAAAGAAAGAAAGAAAGAAAGAA AG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL2_chr18_63118346_63324769	63266637	T T	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0031 a0001c0001t0030g0031	1	264	0.0038	28	c.585 others(47): Show c.585+51444_585+51445insTGTGTGTGAGAGAGAGAGAGAGAGAG AG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL3_chr19_44743708_44765044	44764168	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	344	0.0029	28	c.45 others(39): Show c.4553_*4554insAGGAAGGAAGGAAGGAAGGAAGGGAGCG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		4125		chr19	TogoVar
BCO1_chr16_81233689_81296142	81235191	T T	TAAATAAA others(21): Show TAAATAAATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0163 a0002c0006t0001g0163	1	402	0.0025	28	c.-37 others(39): Show c.-3718_-3717insAAATAAATATATATATATATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3497		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235210	A A	ATATATAT others(21): Show ATATATATAAATAAATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03579.hp2 NA19030.hp2 HG02818.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0124 a0001c0005t0001g0111 a0001c0005t0001g0131 a0001c0002t0001g0124 a0001c0005t0001g0111 a0001c0005t0001g0131	3	402	0.0075	28	c.-36 others(39): Show c.-3699_-3698insTATATATAAATAAATATATATATATATT	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3478		chr16	TogoVar
BCOR_chrX_40046251_40102958	40046528	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	257	0.0039	28	c.55 others(39): Show c.5580_*5581insCATATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4722		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046528	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	257	0.0039	28	c.55 others(39): Show c.5580_*5581insCACATATATATATATATATATATATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4722		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046554	A A	ATATGTAT others(21): Show ATATGTATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0103 a0010c0013t0001g0103	1	257	0.0039	28	c.55 others(39): Show c.5554_*5555insCATATATATATATATATATATATACATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4696		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 NA19002.hp2 HG00323.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0131 a0001c0001t0035g0144 a0001c0001t0035g0131 a0001c0001t0035g0144	2	319	0.0063	28	c.12 others(39): Show c.1268_*1295dupACACACACACACACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197542521	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01934.hp2 HG01981.hp1 others(2): Show HG00597.hp2 HG01934.hp2 HG01981.hp1 HG02129.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0081 a0001c0001t0084 others(2): Show a0001c0001t0007 a0001c0001t0081 a0001c0001t0084 a0001c0001t0095 a0001c0001t0209	a0001c0001t0007g0111 a0001c0001t0081g0109 a0001c0001t0084g0110 others(2): Show a0001c0001t0007g0111 a0001c0001t0081g0109 a0001c0001t0084g0110 a0001c0001t0095g0112 a0001c0001t0209g0113	5	319	0.0157	28	c.83+ others(43): Show c.83+3839_83+3840insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	3/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(21): Show TTATTTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0029 a0001c0001t0117g0029	1	319	0.0031	28	c.-43 others(45): Show c.-43-3490_-43-3489insTATATATATATATATATATATAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BEAN1_chr16_66422295_66487833	66474610	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGAAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	298	0.0034	28	c.290 others(45): Show c.290-2943_290-2942insGAGGGAGGAAGGAAGGGAGGAAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474614	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGAGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01169.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01169.hp2 HG01934.hp2 HG04184.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0096 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0264 a0001c0001t0001g0265	6	298	0.0201	28	c.290 others(45): Show c.290-2943_290-2942insGAGGGAGGGAGAGAGGGAGGGAGGAAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474622	G G	GAGGGAGG others(21): Show GAGGGAGGAAGGAAGGGAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	298	0.0034	28	c.290 others(45): Show c.290-2931_290-2930insAAGGAAGGGAGGAAGGGAGGAAGGGAGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474637	G G	GGAGGGAG others(21): Show GGAGGGAGGGAGGGAGGGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA20752.hp2 NA21309.hp1 HG01071.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271	3	298	0.0101	28	c.290 others(45): Show c.290-2910_290-2909insAGGGAGGGAGGGAGAGAGGGAGGGAGGG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEST3_chr12_69648609_69704303	69680310	C C	CTTCTTTT others(21): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp1 HG02723.hp1 others(2): Show HG01361.hp2 HG02055.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0004t0011 a0001c0007t0001 a0001c0004t0001 a0001c0004t0011 a0001c0007t0001	a0001c0004t0001g0015 a0001c0004t0011g0060 a0001c0004t0011g0061 others(1): Show a0001c0004t0001g0015 a0001c0004t0011g0060 a0001c0004t0011g0061 a0001c0007t0001g0058	5	366	0.0137	28	c.482 others(45): Show c.482-1418_482-1417insAAAAAAAAAAAAAAAAAAAAAAAAAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69685029	C C	CTATTCTA others(21): Show CTATTCTATTCTATTCTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04199.hp1 HG02735.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0194 a0001c0001t0003g0055 a0001c0001t0003g0194	2	366	0.0055	28	c.482 others(45): Show c.482-6137_482-6136insATAGAATAGAATAGAATAGAATAGAATA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST4_chr1_44778585_44793170	44791850	T T	TCCGGAGC others(21): Show TCCGGAGCCACACTGCCCAGGTTCCCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	390	0.0026	28	c.-41 others(39): Show c.-4146_-4145insCTTGGGAACCTGGGCAGTGTGGCTCCGG	BEST4	ENSG00000142959.5	transcript	ENST00000372207.4	protein_coding		3681		chr1	TogoVar
BFSP2_chr3_133395056_133480208	133424216	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	276	0.0036	28	c.490 others(47): Show c.490-23100_490-23099insGTGTGTGTGTGTGTGTGTGTGTGTGT GT	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BHLHA9_chr17_1265444_1276815	1275531	G G	GGTGAGTG others(21): Show GGTGAGTGTGTGTGGGTGAGTGTGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(133): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02683.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0008t0002	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0005g0000 others(2): Show a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0005g0000 a0001c0002t0010g0000 a0001c0008t0002g0000	136	442	0.3077	28	c.42 others(39): Show c.4260_*4261insGTGAGTGTGTGTGGGTGAGTGTGTGAGT	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3717		chr17	TogoVar
BICC1_chr10_58507872_58836435	58607317	A A	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00621.hp1 others(45): Show HG00323.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01243.hp1 HG01261.hp2 HG01358.hp2 HG01928.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03540.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18972.hp1 NA18983.hp1 NA18983.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0004c0005 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0021 a0001c0001t0027 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0020 a0002c0002t0041 a0002c0003t0004 a0002c0003t0009 a0002c0003t0019 a0002c0003t0026 a0002c0006t0039 a0004c0005t0053 a0007c0011t0005	a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0083 others(45): Show a0001c0001t0001g0068 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0002g0011 a0001c0001t0002g0034 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0003g0056 a0001c0001t0003g0063 a0001c0001t0005g0014 a0001c0001t0006g0085 a0001c0001t0006g0099 a0001c0001t0007g0080 a0001c0001t0007g0106 a0001c0001t0012g0058 a0001c0001t0021g0045 a0001c0001t0027g0042 a0001c0001t0048g0086 a0001c0001t0049g0076 a0001c0001t0051g0098 a0002c0002t0004g0020 a0002c0002t0004g0031 a0002c0002t0004g0038 a0002c0002t0004g0043 a0002c0002t0004g0093 a0002c0002t0005g0033 a0002c0002t0005g0039 a0002c0002t0006g0078 a0002c0002t0006g0102 a0002c0002t0010g0074 a0002c0002t0010g0121 a0002c0002t0010g0123 a0002c0002t0013g0127 a0002c0002t0013g0128 a0002c0002t0013g0129 a0002c0002t0018g0124 a0002c0002t0020g0101 a0002c0002t0041g0125 a0002c0003t0004g0052 a0002c0003t0009g0104 a0002c0003t0019g0115 a0002c0003t0019g0116 a0002c0003t0026g0047 a0002c0006t0039g0110 a0004c0005t0053g0092 a0007c0011t0005g0040	48	132	0.3636	28	c.191 others(47): Show c.191-13511_191-13510insTAAATAAATAAATAAATAAATAAATA AA	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar

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