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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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
BAG4_chr8_38171855_38218301	38201872	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0303 a0001c0001t0026g0303	1	306	0.0033	-19	c.379 others(36): Show c.379-5638_379-5620delATATATATTTTTTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
BAG5_chr14_103551551_103567657	103563174	AGACAAAC others(12): Show AGACAAACCCGGGCCTCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	-19	c.-60 others(28): Show c.-606_-588delCCCGAGGCCCGGGTTTGTC	BAG5	ENSG00000166170.12	transcript	ENST00000299204.6	protein_coding		518		chr14	TogoVar
BAHCC1_chr17_81390457_81471331	81423568	CCCCAGGT others(12): Show CCCCAGGTTCCTGGAATGGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0047 a0047	a0047c0046 a0047c0046	a0047c0046t0004 a0047c0046t0004	a0047c0046t0004g0273 a0047c0046t0004g0273	1	332	0.0030	-19	c.179 others(36): Show c.179-3225_179-3207delTTCCTGGAATGGTCCCAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81055629	TATCTTGG others(12): Show TATCTTGGCTCCCTGCAAAC	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0198 a0001c0009t0003g0198	1	376	0.0027	-19	c.130 others(36): Show c.130+1887_130+1905delATCTTGGCTCCCTGCAAAC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81060274	TCCAAAGC others(12): Show TCCAAAGCATTTTTATCACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02965.hp2 HG01891.hp2 HG02109.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0024 a0001c0001t0013 a0001c0001t0024	a0001c0001t0013g0230 a0001c0001t0013g0231 a0001c0001t0024g0182 a0001c0001t0013g0230 a0001c0001t0013g0231 a0001c0001t0024g0182	3	376	0.0080	-19	c.217 others(36): Show c.217+2315_217+2333delATTTTTATCACCCCAAAGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81105084	CCCCCCAG others(12): Show CCCCCCAGCGGCAGGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02145.hp1 others(4): Show HG01081.hp1 HG01891.hp1 HG02145.hp1 HG02647.hp1 HG02738.hp2 HG03704.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0290 others(4): Show a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0290 a0001c0001t0001g0330 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0015g0183	7	376	0.0186	-19	c.126 others(36): Show c.1268+375_1268+393delAGCGGCAGGGGTCTCCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01361.hp2 HG02056.hp1 others(7): Show HG00544.hp1 HG01361.hp2 HG02056.hp1 HG02523.hp2 HG06807.hp1 NA18948.hp2 NA18974.hp2 NA19056.hp2 NA19086.hp1 NA20805.hp2	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0010	a0003c0004 a0005c0006 a0007c0008 others(1): Show a0003c0004 a0005c0006 a0007c0008 a0010c0015	a0003c0004t0001 a0005c0006t0001 a0005c0006t0003 others(2): Show a0003c0004t0001 a0005c0006t0001 a0005c0006t0003 a0007c0008t0002 a0010c0015t0003	a0003c0004t0001g0012 a0003c0004t0001g0205 a0003c0004t0001g0281 others(7): Show a0003c0004t0001g0012 a0003c0004t0001g0205 a0003c0004t0001g0281 a0005c0006t0001g0006 a0005c0006t0003g0004 a0005c0006t0003g0266 a0007c0008t0002g0008 a0007c0008t0002g0009 a0007c0008t0002g0013 a0010c0015t0003g0270	10	284	0.0352	-19	c.469 others(36): Show c.469+9762_469+9780delTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BARHL2_chr1_90706539_90722302	90721526	TAATTTTG others(12): Show TAATTTTGAACGTTTCTAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(38): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp2 HG02109.hp2 HG02145.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04204.hp1 NA18939.hp1 NA18948.hp1 NA19003.hp2 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0005c0007t0002 a0001c0001t0001 a0001c0001t0002 a0005c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0002g0009 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0059 a0001c0001t0002g0092 a0005c0007t0002g0052	41	446	0.0919	-19	c.-43 others(30): Show c.-4350_-4332delCTTAGAAACGTTCAAAATT	BARHL2	ENSG00000143032.8	transcript	ENST00000370445.5	protein_coding		4225		chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34836378	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02145.hp1 HG01993.hp2 HG02145.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0196 a0001c0005t0006g0200 a0001c0005t0006g0196 a0001c0005t0006g0200	2	380	0.0053	-19	c.393 others(38): Show c.393-10241_393-10223delTTTTTTTTTTTTTTTTTTT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159499403	TTTCTTTA others(12): Show TTTCTTTATCCAGTCTATCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	216	0.0046	-19	c.-2- others(36): Show c.-2-20701_-2-20683delTGATAGACTGGATAAAGAA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBIP1_chr10_110893730_110924180	110912654	TCAAGTCT others(12): Show TCAAGTCTTGGTTTCTAAAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	418	0.0024	-19	c.37+ others(34): Show c.37+5448_37+5466delTTTTAGAAACCAAGACTTG	BBIP1	ENSG00000214413.9	transcript	ENST00000448814.7	protein_coding	2/3			chr10	TogoVar
BBOF1_chr14_74014349_74071092	74036952	ATCTTTTT others(12): Show ATCTTTTTTTTTTTCTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02451.hp2 others(5): Show HG02055.hp2 HG02257.hp1 HG02451.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG03209.hp2 NA20129.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0008 a0006c0005t0005 a0006c0005t0008	a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 others(5): Show a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 a0006c0005t0005g0372 a0006c0005t0005g0373 a0006c0005t0008g0378 a0006c0005t0008g0379 a0006c0005t0008g0380	8	386	0.0207	-19	c.495 others(36): Show c.495+2795_495+2813delCTTTTTTCTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBS9_chr7_33124564_33611069	33435763	AAGGCCAT others(12): Show AAGGCCATTCAGTTGGTTCC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp1 HG03490.hp2 others(2): Show HG02602.hp1 HG02738.hp1 HG03490.hp2 HG03688.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0188 a0002c0002t0004g0001 a0002c0002t0004g0002 others(2): Show a0002c0002t0002g0188 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0013 a0002c0002t0004g0019	5	268	0.0187	-19	c.211 others(40): Show c.2115+47623_2115+47641delCCATTCAGTTGGTTCCAGG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAM_chr19_44804103_44826421	44810789	CAGGGCCC others(12): Show CAGGGCCCTGTGCAGCCCAG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0059 a0001c0004t0002g0059	1	410	0.0024	-19	c.83- others(32): Show c.83-432_83-414delGCCCTGTGCAGCCCAGAGG	BCAM	ENSG00000187244.12	transcript	ENST00000270233.12	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BCAS3_chr17_60672851_61397831	60751523	GTTTCTTT others(12): Show GTTTCTTTTTTTTCTTTTTC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG01256.hp1 others(13): Show HG00639.hp2 HG01099.hp2 HG01256.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02486.hp1 HG02559.hp1 HG03195.hp1 HG03453.hp1 NA18906.hp1 NA18951.hp1 NA18951.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 a0001c0004 a0002c0003 a0003c0001	a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 a0003c0001t0001	a0001c0004t0001g0046 a0002c0003t0001g0037 a0002c0003t0001g0038 others(13): Show a0001c0004t0001g0046 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0002g0036 a0002c0003t0002g0039 a0003c0001t0001g0002 a0003c0001t0001g0003 a0003c0001t0001g0005 a0003c0001t0001g0006 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0010 a0003c0001t0001g0011 a0003c0001t0001g0012	16	74	0.2162	-19	c.403 others(36): Show c.403+4248_403+4266delCTTTTTTTTCTTTTTCTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61003413	CCCTTCTT others(12): Show CCCTTCTTTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03225.hp1 HG03579.hp1 others(1): Show HG02809.hp1 HG03225.hp1 HG03579.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0003 a0003c0001 a0001c0004 a0002c0003 a0003c0001	a0001c0004t0001 a0002c0003t0001 a0003c0001t0001 others(1): Show a0001c0004t0001 a0002c0003t0001 a0003c0001t0001 a0003c0001t0002	a0001c0004t0001g0058 a0002c0003t0001g0052 a0003c0001t0001g0028 others(1): Show a0001c0004t0001g0058 a0002c0003t0001g0052 a0003c0001t0001g0028 a0003c0001t0002g0022	4	74	0.0541	-19	c.148 others(40): Show c.1487-12337_1487-12319delCCTTCTTTTTCTTTCCTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	15/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61193757	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01256.hp1 HG01256.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0012 a0003c0001t0001g0031 a0003c0001t0001g0012 a0003c0001t0001g0031	2	74	0.0270	-19	c.242 others(42): Show c.2425+109203_2425+109221delAAAAAAAAAAAAAAAAAAA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24952686	ATGTCTCT others(12): Show ATGTCTCTCCTCCCATTTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0300 a0001c0001t0010g0300	1	322	0.0031	-19	c.-37 others(30): Show c.-3773_-3755delGGAAATGGGAGGAGAGACA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding		3586		chr12	TogoVar
BCAT2_chr19_48790064_48816029	48809066	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	408	0.0025	-19	c.24+ others(34): Show c.24+1899_24+1917delTTTTTTTTTTTTTTTTTTT	BCAT2	ENSG00000105552.15	transcript	ENST00000316273.11	protein_coding	1/10			chr19	TogoVar
BCL11A_chr2_60452194_60558654	60507237	AGGGAGGG others(12): Show AGGGAGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	262	0.0038	-19	c.386 others(38): Show c.386-38423_386-38405delCTCCCCTCCCCTCCCTCCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL11B_chr14_99164287_99277197	99269875	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0290 a0001c0001t0077g0290	1	350	0.0029	-19	c.58+ others(34): Show c.58+1267_58+1285delTTTTTTTTTTTTTTTTTTT	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	1/3			chr14	TogoVar
BCL2L11_chr2_111115914_111173444	111127253	TTAAAGTG others(12): Show TTAAAGTGTAGTCAGTACAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG03688.hp1 HG01168.hp2 HG01169.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0064 a0001c0001t0026 a0001c0001t0064	a0001c0001t0026g0229 a0001c0001t0026g0231 a0001c0001t0064g0230 a0001c0001t0026g0229 a0001c0001t0026g0231 a0001c0001t0064g0230	3	398	0.0075	-19	c.394 others(36): Show c.394+3133_394+3151delCTAAAGTGTAGTCAGTACA	BCL2L11	ENSG00000153094.25	transcript	ENST00000393256.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L13_chr22_17633757_17735855	17656335	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	306	0.0033	-19	c.121 others(34): Show c.121+518_121+536delTTTTTTTTTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17680523	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01081.hp1 others(10): Show HG00423.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp2 HG01361.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02148.hp2 HG02300.hp2 HG03492.hp2 HG03654.hp1	a0003 a0003	a0003c0004 a0003c0005 a0003c0004 a0003c0005	a0003c0004t0015 a0003c0004t0016 a0003c0004t0030 others(2): Show a0003c0004t0015 a0003c0004t0016 a0003c0004t0030 a0003c0004t0031 a0003c0005t0006	a0003c0004t0015g0080 a0003c0004t0015g0081 a0003c0004t0015g0253 others(10): Show a0003c0004t0015g0080 a0003c0004t0015g0081 a0003c0004t0015g0253 a0003c0004t0016g0087 a0003c0004t0016g0088 a0003c0004t0016g0089 a0003c0004t0030g0101 a0003c0004t0031g0254 a0003c0005t0006g0082 a0003c0005t0006g0083 a0003c0005t0006g0084 a0003c0005t0006g0085 a0003c0005t0006g0086	13	306	0.0425	-19	c.122 others(36): Show c.122-2683_122-2665delAAAAAAAAAAAGAAAAAAA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715154	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0243 a0001c0001t0024g0243	1	306	0.0033	-19	c.601 others(38): Show c.601-11521_601-11503delATATATATATATATATTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715156	ATATATAT others(12): Show ATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19030.hp1 HG02723.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0041 a0001c0002t0037 a0001c0001t0041 a0001c0002t0037	a0001c0001t0041g0240 a0001c0002t0037g0062 a0001c0001t0041g0240 a0001c0002t0037g0062	2	306	0.0065	-19	c.601 others(38): Show c.601-11519_601-11501delATATATATATATATTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715160	ATATATAT others(12): Show ATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA20752.hp1 HG03654.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0069 a0001c0002t0006g0079 a0001c0002t0006g0069 a0001c0002t0006g0079	2	306	0.0065	-19	c.601 others(38): Show c.601-11515_601-11497delATATATATATTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715162	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0072 a0001c0002t0006g0072	1	306	0.0033	-19	c.601 others(38): Show c.601-11513_601-11495delATATATATTTTTTTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63281720	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0175 a0001c0001t0046g0175	1	264	0.0038	-19	c.585 others(38): Show c.585+36343_585+36361delTTTCTTTCTTTCTTTCTTT	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCO1_chr16_81233689_81296142	81265204	TCACCCAT others(12): Show TCACCCATCCACCATCCGTC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	402	0.0025	-19	c.619 others(34): Show c.619+430_619+448delATCCGTCCACCCATCCACC	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BCORL1_chrX_129977635_130063071	130043765	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0064 a0001c0007t0001g0064	1	203	0.0049	-19	c.484 others(38): Show c.4840+4484_4840+4502delATATATATATATATATATA	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13			chrX	TogoVar
BCR_chr22_23175509_23323037	23262087	ACGCCATC others(12): Show ACGCCATCACACCCTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00423.hp1 others(170): Show HG00099.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18997.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0024 a0001c0026 a0001c0032 a0001c0033 a0001c0037 a0001c0038 a0002c0003 a0002c0007 a0002c0014 a0002c0022 a0002c0027 a0002c0028 a0002c0036 a0003c0008 a0003c0031 a0003c0034 a0004c0011 a0009c0025 a0010c0039	a0001c0001t0049 a0001c0001t0082 a0001c0001t0104 others(128): Show a0001c0001t0049 a0001c0001t0082 a0001c0001t0104 a0001c0001t0140 a0001c0001t0142 a0001c0001t0159 a0001c0001t0163 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0045 a0001c0002t0052 a0001c0002t0083 a0001c0002t0086 a0001c0002t0108 a0001c0002t0111 a0001c0002t0112 a0001c0002t0113 a0001c0002t0117 a0001c0002t0133 a0001c0002t0134 a0001c0002t0136 a0001c0002t0137 a0001c0002t0139 a0001c0002t0153 a0001c0002t0158 a0001c0002t0160 a0001c0002t0164 a0001c0002t0206 a0001c0002t0218 a0001c0004t0109 a0001c0004t0200 a0001c0005t0014 a0001c0005t0026 a0001c0005t0037 a0001c0005t0038 a0001c0005t0105 a0001c0005t0106 a0001c0005t0107 a0001c0005t0122 a0001c0005t0146 a0001c0005t0171 a0001c0005t0172 a0001c0005t0173 a0001c0005t0175 a0001c0005t0176 a0001c0005t0191 a0001c0005t0192 a0001c0005t0194 a0001c0005t0198 a0001c0009t0115 a0001c0010t0010 a0001c0010t0118 a0001c0012t0012 a0001c0013t0011 a0001c0013t0090 a0001c0013t0135 a0001c0017t0114 a0001c0018t0044 a0001c0018t0048 a0001c0019t0032 a0001c0020t0156 a0001c0020t0157 a0001c0024t0177 a0001c0026t0119 a0001c0032t0116 a0001c0033t0047 a0001c0037t0046 a0001c0038t0070 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0013 a0002c0003t0017 a0002c0003t0019 a0002c0003t0022 a0002c0003t0043 a0002c0003t0053 a0002c0003t0054 a0002c0003t0058 a0002c0003t0060 a0002c0003t0072 a0002c0003t0073 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0095 a0002c0003t0096 a0002c0003t0098 a0002c0003t0099 a0002c0003t0102 a0002c0003t0103 a0002c0003t0110 a0002c0003t0145 a0002c0003t0148 a0002c0003t0149 a0002c0003t0155 a0002c0007t0014 a0002c0007t0034 a0002c0007t0042 a0002c0007t0169 a0002c0007t0183 a0002c0007t0207 a0002c0014t0006 a0002c0022t0018 a0002c0027t0214 a0002c0028t0179 a0002c0036t0097 a0003c0008t0005 a0003c0031t0129 a0003c0034t0130 a0004c0011t0125 a0004c0011t0127 a0004c0011t0128 a0009c0025t0190 a0010c0039t0094	a0001c0001t0049g0271 a0001c0001t0082g0124 a0001c0001t0104g0184 others(166): Show a0001c0001t0049g0271 a0001c0001t0082g0124 a0001c0001t0104g0184 a0001c0001t0140g0213 a0001c0001t0142g0248 a0001c0001t0159g0287 a0001c0001t0163g0129 a0001c0002t0004g0227 a0001c0002t0004g0261 a0001c0002t0004g0262 a0001c0002t0008g0112 a0001c0002t0008g0144 a0001c0002t0011g0242 a0001c0002t0013g0138 a0001c0002t0016g0195 a0001c0002t0016g0196 a0001c0002t0020g0133 a0001c0002t0020g0140 a0001c0002t0024g0204 a0001c0002t0024g0207 a0001c0002t0025g0096 a0001c0002t0025g0178 a0001c0002t0026g0258 a0001c0002t0027g0175 a0001c0002t0027g0176 a0001c0002t0028g0284 a0001c0002t0028g0285 a0001c0002t0029g0004 a0001c0002t0030g0255 a0001c0002t0030g0257 a0001c0002t0031g0171 a0001c0002t0031g0183 a0001c0002t0033g0132 a0001c0002t0033g0283 a0001c0002t0045g0270 a0001c0002t0052g0155 a0001c0002t0083g0119 a0001c0002t0086g0256 a0001c0002t0108g0290 a0001c0002t0111g0236 a0001c0002t0112g0254 a0001c0002t0113g0212 a0001c0002t0117g0291 a0001c0002t0133g0180 a0001c0002t0134g0179 a0001c0002t0136g0181 a0001c0002t0137g0215 a0001c0002t0139g0168 a0001c0002t0153g0197 a0001c0002t0158g0286 a0001c0002t0160g0131 a0001c0002t0164g0128 a0001c0002t0206g0177 a0001c0002t0218g0203 a0001c0004t0109g0273 a0001c0004t0200g0065 a0001c0005t0014g0038 a0001c0005t0026g0278 a0001c0005t0037g0039 a0001c0005t0037g0040 a0001c0005t0038g0030 a0001c0005t0038g0060 a0001c0005t0105g0092 a0001c0005t0106g0095 a0001c0005t0107g0274 a0001c0005t0122g0088 a0001c0005t0146g0091 a0001c0005t0171g0036 a0001c0005t0172g0044 a0001c0005t0173g0045 a0001c0005t0175g0011 a0001c0005t0176g0008 a0001c0005t0191g0009 a0001c0005t0192g0013 a0001c0005t0194g0010 a0001c0005t0198g0007 a0001c0009t0115g0272 a0001c0010t0010g0002 a0001c0010t0010g0103 a0001c0010t0118g0201 a0001c0012t0012g0089 a0001c0012t0012g0090 a0001c0012t0012g0093 a0001c0013t0011g0169 a0001c0013t0090g0187 a0001c0013t0135g0173 a0001c0017t0114g0172 a0001c0018t0044g0266 a0001c0018t0048g0268 a0001c0019t0032g0136 a0001c0019t0032g0137 a0001c0020t0156g0192 a0001c0020t0157g0194 a0001c0024t0177g0024 a0001c0026t0119g0275 a0001c0032t0116g0199 a0001c0033t0047g0269 a0001c0037t0046g0267 a0001c0038t0070g0134 a0002c0003t0002g0097 a0002c0003t0002g0098 a0002c0003t0002g0101 a0002c0003t0002g0222 a0002c0003t0002g0238 a0002c0003t0002g0245 a0002c0003t0002g0263 a0002c0003t0003g0087 a0002c0003t0003g0205 a0002c0003t0003g0221 a0002c0003t0003g0225 a0002c0003t0003g0251 a0002c0003t0003g0253 a0002c0003t0003g0288 a0002c0003t0004g0265 a0002c0003t0013g0228 a0002c0003t0017g0115 a0002c0003t0019g0152 a0002c0003t0019g0153 a0002c0003t0022g0219 a0002c0003t0022g0234 a0002c0003t0043g0282 a0002c0003t0053g0118 a0002c0003t0054g0154 a0002c0003t0058g0167 a0002c0003t0060g0151 a0002c0003t0072g0108 a0002c0003t0073g0107 a0002c0003t0087g0239 a0002c0003t0088g0206 a0002c0003t0089g0247 a0002c0003t0091g0231 a0002c0003t0092g0220 a0002c0003t0093g0241 a0002c0003t0095g0230 a0002c0003t0096g0229 a0002c0003t0098g0224 a0002c0003t0099g0250 a0002c0003t0102g0218 a0002c0003t0103g0249 a0002c0003t0110g0174 a0002c0003t0145g0214 a0002c0003t0148g0260 a0002c0003t0149g0216 a0002c0003t0155g0100 a0002c0007t0014g0020 a0002c0007t0034g0063 a0002c0007t0034g0066 a0002c0007t0042g0001 a0002c0007t0169g0078 a0002c0007t0183g0068 a0002c0007t0207g0017 a0002c0014t0006g0005 a0002c0014t0006g0226 a0002c0022t0018g0146 a0002c0022t0018g0147 a0002c0027t0214g0027 a0002c0028t0179g0016 a0002c0036t0097g0244 a0003c0008t0005g0079 a0003c0008t0005g0082 a0003c0008t0005g0083 a0003c0008t0005g0085 a0003c0031t0129g0277 a0003c0034t0130g0232 a0004c0011t0125g0279 a0004c0011t0127g0281 a0004c0011t0128g0280 a0009c0025t0190g0080 a0010c0039t0094g0102	173	296	0.5845	-19	c.175 others(36): Show c.1752+568_1752+586delGCCATCACACCCTGTGTGC	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCR_chr22_23175509_23323037	23262108	GCCATCAC others(12): Show GCCATCACACCCTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01346.hp1 HG02071.hp1 HG00609.hp2 HG01346.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0143 a0001c0002t0217 a0001c0001t0023 a0001c0001t0143 a0001c0002t0217	a0001c0001t0023g0235 a0001c0001t0143g0246 a0001c0002t0217g0139 a0001c0001t0023g0235 a0001c0001t0143g0246 a0001c0002t0217g0139	3	296	0.0101	-19	c.175 others(36): Show c.1752+589_1752+607delCATCACACCCTGTGTGCAC	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510665	TGTGTGTA others(12): Show TGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02886.hp2 others(1): Show HG02055.hp1 HG02258.hp1 HG02886.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0136 a0001c0001t0149 others(1): Show a0001c0001t0045 a0001c0001t0136 a0001c0001t0149 a0001c0001t0232	a0001c0001t0045g0019 a0001c0001t0136g0045 a0001c0001t0149g0269 others(1): Show a0001c0001t0045g0019 a0001c0001t0136g0045 a0001c0001t0149g0269 a0001c0001t0232g0309	4	319	0.0125	-19	c.12 others(30): Show c.1211_*1229delCTTACACACATGTACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96216733	AAGGAGGA others(12): Show AAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(43): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02615.hp2 HG02683.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp2 HG04228.hp2 NA18982.hp2 NA19082.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0047 a0001c0001t0060 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(37): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0304 a0001c0001t0001g0335 a0001c0001t0004g0116 a0001c0001t0004g0231 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0006g0005 a0001c0001t0006g0022 a0001c0001t0006g0168 a0001c0001t0006g0334 a0001c0001t0013g0010 a0001c0001t0013g0145 a0001c0001t0013g0252 a0001c0001t0013g0253 a0001c0001t0020g0207 a0001c0001t0021g0086 a0001c0001t0021g0126 a0001c0001t0021g0333 a0001c0001t0047g0124 a0001c0001t0060g0005 a0001c0002t0002g0087 a0001c0002t0002g0165 a0001c0002t0002g0330 a0001c0002t0008g0167	46	436	0.1055	-19	c.-40 others(38): Show c.-40+11810_-40+11828delAGGAGGAGGAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BEAN1_chr16_66422295_66487833	66445475	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp2 HG02109.hp1 others(3): Show HG01109.hp1 HG01433.hp2 HG02109.hp1 HG02572.hp1 HG02896.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0204 a0001c0001t0001g0224 a0001c0001t0004g0040 a0001c0001t0004g0156	6	298	0.0201	-19	c.25+ others(34): Show c.25+7796_25+7814delAAAAAAAAAAAAAAAAAAA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEST3_chr12_69648609_69704303	69703916	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(14): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01496.hp1 HG01978.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009	a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 others(13): Show a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0008g0013 a0001c0001t0009g0043 a0001c0001t0009g0045	17	366	0.0465	-19	c.-47 others(30): Show c.-4746_-4728delTTTTTTTTTTTTTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		4614		chr12	TogoVar
BICC1_chr10_58507872_58836435	58521768	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02922.hp2 HG02976.hp1 others(2): Show HG01106.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG04204.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0003 a0002c0002t0003 a0002c0002t0004 others(2): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0004 a0002c0003t0016 a0003c0004t0047	a0001c0001t0003g0056 a0002c0002t0003g0027 a0002c0002t0004g0015 others(2): Show a0001c0001t0003g0056 a0002c0002t0003g0027 a0002c0002t0004g0015 a0002c0003t0016g0062 a0003c0004t0047g0120	5	132	0.0379	-19	c.190 others(36): Show c.190+8455_190+8473delTTTTTTTTTTTTTTTTTTT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BICD1_chr12_32101847_32388633	32282202	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02622.hp2 HG02723.hp2 others(3): Show HG00408.hp1 HG02622.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0022	a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0009g0068 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0009g0068 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0022g0102	6	290	0.0207	-19	c.427 others(38): Show c.427-11774_427-11756delTTTTTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG02258.hp2 others(6): Show HG00741.hp2 HG01884.hp1 HG02258.hp2 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03209.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0254	9	270	0.0333	-19	c.184 others(38): Show c.1840-7565_1840-7547delAAAAAAAAAAAAAAAAAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02109.hp2 HG03516.hp1 others(2): Show HG02015.hp1 HG02109.hp2 HG03516.hp1 NA18940.hp2 NA18948.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0027 a0003c0004t0005	a0001c0001t0001g0044 a0001c0001t0002g0057 a0001c0001t0012g0062 others(2): Show a0001c0001t0001g0044 a0001c0001t0002g0057 a0001c0001t0012g0062 a0001c0001t0027g0064 a0003c0004t0005g0017	5	270	0.0185	-19	c.184 others(38): Show c.1840-6862_1840-6844delTTTTTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BID_chr22_17729138_17779469	17756413	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18943.hp1 NA19078.hp2 HG00408.hp2 NA18943.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0095 a0001c0001t0001g0138 a0001c0001t0001g0042 a0001c0001t0001g0095 a0001c0001t0001g0138	3	362	0.0083	-19	c.-58 others(36): Show c.-58-6258_-58-6240delGAAAGAAAGAAAGAAAGAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIN2_chr12_51276038_51329174	51318896	TTTTGGTT others(12): Show TTTTGGTTTGGCCATATCTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02735.hp2 HG03704.hp2 others(1): Show HG01070.hp2 HG02735.hp2 HG03704.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092	4	400	0.0100	-19	c.82- others(34): Show c.82-5012_82-4994delCAGATATGGCCAAACCAAA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIRC6_chr2_32352023_32623878	32461152	CCTCCCCT others(12): Show CCTCCCCTCTCCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0017 a0001c0007t0004g0017	1	274	0.0037	-19	c.475 others(38): Show c.4754-2033_4754-2015delTCCCCTCCCCTCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01496.hp2 HG02486.hp2 others(4): Show HG01255.hp2 HG01496.hp2 HG02486.hp2 HG02922.hp1 HG03490.hp2 HG03516.hp1 HG03688.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0013 a0002c0002 others(2): Show a0001c0003 a0001c0013 a0002c0002 a0003c0017 a0004c0019	a0001c0003t0003 a0001c0013t0003 a0002c0002t0003 others(2): Show a0001c0003t0003 a0001c0013t0003 a0002c0002t0003 a0003c0017t0003 a0004c0019t0003	a0001c0003t0003g0126 a0001c0003t0003g0134 a0001c0013t0003g0154 others(4): Show a0001c0003t0003g0126 a0001c0003t0003g0134 a0001c0013t0003g0154 a0002c0002t0003g0014 a0003c0017t0003g0135 a0003c0017t0003g0136 a0004c0019t0003g0144	7	274	0.0256	-19	c.740 others(36): Show c.7409-680_7409-662delTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32552804	TAAATAGT others(12): Show TAAATAGTAGCCACTTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02818.hp1 HG01081.hp2 HG02818.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0175 a0001c0025t0002g0177 a0001c0025t0002g0175 a0001c0025t0002g0177	2	274	0.0073	-19	c.131 others(40): Show c.13144+3326_13144+3344delATAGTAGCCACTTAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0146 a0002c0004t0002g0146	1	274	0.0037	-19	c.131 others(40): Show c.13144+3735_13144+3753delAAAAAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32579020	ATATACCT others(12): Show ATATACCTAATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03225.hp2 HG02647.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0039 a0002c0002 a0002c0039	a0002c0002t0002 a0002c0039t0002 a0002c0002t0002 a0002c0039t0002	a0002c0002t0002g0064 a0002c0039t0002g0061 a0002c0002t0002g0064 a0002c0039t0002g0061	2	274	0.0073	-19	c.133 others(40): Show c.13355+3692_13355+3710delGTATACCTAATATATATAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11504363	GGAAGAAA others(12): Show GGAAGAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00733.hp1 others(57): Show HG00323.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02976.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0005c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(13): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0016 a0001c0003t0004 a0001c0003t0006 a0001c0004t0004 a0001c0005t0009 a0001c0005t0010 a0005c0013t0010	a0001c0001t0003g0002 a0001c0001t0003g0251 a0001c0001t0003g0253 others(51): Show a0001c0001t0003g0002 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0260 a0001c0001t0003g0276 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0290 a0001c0001t0005g0259 a0001c0001t0009g0081 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0252 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0277 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0289 a0001c0002t0004g0080 a0001c0002t0005g0279 a0001c0002t0005g0285 a0001c0002t0008g0011 a0001c0002t0008g0226 a0001c0002t0012g0250 a0001c0002t0016g0025 a0001c0003t0004g0209 a0001c0003t0004g0248 a0001c0003t0004g0268 a0001c0003t0004g0275 a0001c0003t0006g0125 a0001c0004t0004g0208 a0001c0004t0004g0210 a0001c0004t0004g0278 a0001c0005t0009g0119 a0001c0005t0010g0005 a0001c0005t0010g0117 a0005c0013t0010g0118	60	308	0.1948	-19	c.-2+ others(34): Show c.-2+9773_-2+9791delGAAGAAAGAAAAGAAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12			chr8	TogoVar
BLM_chr15_90712346_90821166	90733746	ATATCCAT others(12): Show ATATCCATCACTCTCAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	280	0.0036	-19	c.-4- others(36): Show c.-4-13641_-4-13623delATCCATCACTCTCAAAAGT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar

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