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
BCR_chr22_23175509_23323037	23262711	GGGCCCGG others(8): Show GGGCCCGGGTGAGGGC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0188 a0001c0001t0100g0188	1	296	0.0034	-15	c.175 others(34): Show c.1752+1174_1752+1188delCCCGGGTGAGGGCGG	BCR	ENSG00000186716.21	transcript	ENST00000305877.13	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
BDH1_chr3_197504783_197560968	197510669	TGTACATG others(8): Show TGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG02486.hp2 HG03139.hp1 others(1): Show HG01361.hp1 HG02486.hp2 HG03139.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0001t0134 a0001c0002t0051 a0001c0001t0030 a0001c0001t0134 a0001c0002t0051	a0001c0001t0030g0263 a0001c0001t0030g0274 a0001c0001t0134g0043 others(1): Show a0001c0001t0030g0263 a0001c0001t0030g0274 a0001c0001t0134g0043 a0001c0002t0051g0016	4	319	0.0125	-15	c.12 others(26): Show c.1211_*1225delCTTACACACATGTAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDKRB2_chr14_96199839_96249164	96243362	AGCTAGAA others(8): Show AGCTAGAACCTGGAGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0282 a0001c0001t0053g0282	1	436	0.0023	-15	c.18 others(26): Show c.1884_*1898delGGAGGGCTAGAACCT	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3	1884	INFO_REALIGN_3_PRIME	chr14	TogoVar
BDKRB2_chr14_96199839_96249164	96243472	CAGAACCT others(8): Show CAGAACCTGGAGGGCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0039 a0004c0005t0039	a0004c0005t0039g0275 a0004c0005t0039g0275	1	436	0.0023	-15	c.19 others(26): Show c.1979_*1993delGGGCTAGAACCTGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	3/3	1979	INFO_REALIGN_3_PRIME	chr14	TogoVar
BDP1_chr5_71450651_71572820	71480277	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	325	0.0031	-15	c.101 others(34): Show c.1015-3549_1015-3535delTTTTTTTTTTTTTTT	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66445475	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	298	0.0034	-15	c.25+ others(30): Show c.25+7800_25+7814delAAAAAAAAAAAAAAA	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474730	AAAAGAAA others(8): Show AAAAGAAAGGAAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA19010.hp1 NA18977.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0221 a0001c0001t0001g0239	2	298	0.0067	-15	c.290 others(32): Show c.290-2821_290-2807delGAAAGAGAAAGAAAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEND2_chrX_18157931_18225886	18185533	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG03209.hp1 HG02615.hp1 HG02630.hp1 HG03209.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0004c0006t0010 a0001c0001t0002 a0004c0006t0010	a0001c0001t0002g0278 a0004c0006t0010g0147 a0004c0006t0010g0148 a0001c0001t0002g0278 a0004c0006t0010g0147 a0004c0006t0010g0148	3	295	0.0102	-15	c.128 others(34): Show c.1289-4898_1289-4884delATTATTATTATTATT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	8/13			chrX	TogoVar
BEND2_chrX_18157931_18225886	18201403	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01884.hp1 others(7): Show HG01070.hp2 HG01071.hp1 HG01884.hp1 HG02257.hp1 HG02630.hp2 HG03139.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0012 a0001c0001 a0002c0002 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0002c0002t0001 a0006c0012t0001	a0001c0001t0001g0207 a0001c0001t0003g0001 a0001c0001t0003g0206 others(5): Show a0001c0001t0001g0207 a0001c0001t0003g0001 a0001c0001t0003g0206 a0001c0001t0003g0281 a0001c0001t0011g0141 a0001c0001t0011g0142 a0002c0002t0001g0015 a0006c0012t0001g0008	10	295	0.0339	-15	c.103 others(32): Show c.1033+397_1033+411delGTTTTTTTTTTTTTT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding	6/13			chrX	TogoVar
BEND5_chr1_48722519_48781891	48769555	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	342	0.0029	-15	c.226 others(32): Show c.226+7036_226+7050delGTGTGTGTGTGTGTG	BEND5	ENSG00000162373.13	transcript	ENST00000371833.4	protein_coding	1/5			chr1	TogoVar
BEND7_chr10_13436088_13534014	13478728	TAAACACT others(8): Show TAAACACTGCAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03704.hp1 NA18968.hp2 others(2): Show HG02602.hp1 HG03704.hp1 NA18968.hp2 NA18997.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0045 a0001c0001t0006g0044 a0001c0001t0006g0046 others(2): Show a0001c0001t0001g0045 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048	5	300	0.0167	-15	c.106 others(34): Show c.1063+2156_1063+2170delTTATTTGCAGTGTTT	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	6/8			chr10	TogoVar
BEND7_chr10_13436088_13534014	13528569	GGCGGCAG others(8): Show GGCGGCAGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(262): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0011 a0003c0009 a0004c0010 a0005c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0002t0012 a0001c0002t0015 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0011 a0001c0006t0004 a0001c0008t0001 a0001c0011t0001 a0003c0009t0001 a0004c0010t0001 a0005c0012t0014	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(238): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0004g0100 a0001c0001t0004g0116 a0001c0001t0005g0022 a0001c0001t0006g0044 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0010g0023 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0103 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0239 a0001c0002t0003g0034 a0001c0002t0012g0153 a0001c0002t0015g0276 a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0108 a0001c0003t0001g0109 a0001c0003t0001g0112 a0001c0003t0001g0115 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0138 a0001c0003t0001g0140 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0164 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0193 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0113 a0001c0003t0004g0114 a0001c0003t0005g0017 a0001c0003t0005g0018 a0001c0003t0005g0019 a0001c0003t0005g0020 a0001c0003t0005g0021 a0001c0003t0013g0107 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0041 a0001c0004t0001g0050 a0001c0004t0001g0063 a0001c0004t0001g0081 a0001c0004t0001g0200 a0001c0004t0001g0203 a0001c0004t0001g0205 a0001c0004t0001g0209 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0227 a0001c0004t0001g0234 a0001c0004t0001g0237 a0001c0004t0001g0238 a0001c0004t0003g0025 a0001c0004t0011g0024 a0001c0006t0004g0105 a0001c0006t0004g0106 a0001c0008t0001g0104 a0001c0011t0001g0218 a0003c0009t0001g0212 a0004c0010t0001g0119 a0005c0012t0014g0273	265	300	0.8833	-15	c.-51 others(22): Show c.-51_-37delTGCCGCCGCTGCCGC	BEND7	ENSG00000165626.19	transcript	ENST00000466271.3	protein_coding	1/9	37		chr10	TogoVar
BEST3_chr12_69648609_69704303	69684981	GTTCTATT others(8): Show GTTCTATTCTATTCTA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03195.hp2 HG01934.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0219 a0001c0001t0001g0135 a0001c0001t0001g0219	2	366	0.0055	-15	c.482 others(32): Show c.482-6103_482-6089delTAGAATAGAATAGAA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	4/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69703916	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA19066.hp1 NA20129.hp1 NA18997.hp2 NA19066.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0140 a0001c0001t0001g0180 a0001c0001t0001g0030 a0001c0001t0001g0140 a0001c0001t0001g0180	3	366	0.0082	-15	c.-47 others(26): Show c.-4742_-4728delTTTTTTTTTTTTTTT	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding		4614		chr12	TogoVar
BEX5_chrX_102148712_102160977	102158102	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03491.hp2 HG03492.hp1 others(2): Show HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0001g0002 a0001c0001t0003g0006 a0001c0001t0003g0009	5	324	0.0154	-15	c.-23 others(26): Show c.-2363_-2349delGAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2126		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158141	CTTCTTCT others(8): Show CTTCTTCTTCTTCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	324	0.0031	-15	c.-24 others(26): Show c.-2402_-2388delTAAGAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2165		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158144	CTTCTTCT others(8): Show CTTCTTCTTCTTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01884.hp1 NA18942.hp2 others(2): Show HG00423.hp2 HG01884.hp1 NA18942.hp2 NA19000.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008	5	324	0.0154	-15	c.-24 others(26): Show c.-2405_-2391delTAATAAGAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2168		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158147	CTTCTTCT others(8): Show CTTCTTCTTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02976.hp2 NA18980.hp2 others(3): Show HG02055.hp1 HG02976.hp2 NA18980.hp2 NA18988.hp1 NA19060.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0006 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0006	6	324	0.0185	-15	c.-24 others(26): Show c.-2408_-2394delTAATAATAAGAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2171		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158150	CTTCTTAT others(8): Show CTTCTTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02132.hp1 HG02559.hp2 others(6): Show HG00323.hp2 HG02132.hp1 HG02559.hp2 HG03195.hp2 NA18612.hp1 NA18939.hp2 NA18973.hp2 NA19057.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0004	9	324	0.0278	-15	c.-24 others(26): Show c.-2411_-2397delTAATAATAATAAGAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2174		chrX	TogoVar
BEX5_chrX_102148712_102160977	102158153	CTTATTAT others(8): Show CTTATTATTATTATTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01993.hp2 HG02015.hp1 others(20): Show HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02451.hp2 HG02818.hp1 HG02976.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18943.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18967.hp1 NA18995.hp1 NA18997.hp1 NA19012.hp1 NA19058.hp1 NA19064.hp1 NA19075.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0002g0004	23	324	0.0710	-15	c.-24 others(26): Show c.-2414_-2400delTAATAATAATAATAA	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		2177		chrX	TogoVar
BFSP2_chr3_133395056_133480208	133446571	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0048	1	276	0.0036	-15	c.490 others(30): Show c.490-745_490-731delATATATATATATATA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133446625	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0153 a0001c0002t0001g0153	1	276	0.0036	-15	c.490 others(30): Show c.490-690_490-676delTATATATATATATAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGLAP_chr1_156237184_156248317	156238312	CACATCTA others(8): Show CACATCTAACACATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-15	c.-39 others(26): Show c.-3919_-3905delACATCTAACACATAT	BGLAP	ENSG00000242252.2	transcript	ENST00000368272.5	protein_coding		3871		chr1	TogoVar
BICD1_chr12_32101847_32388633	32118440	AGCATCCT others(8): Show AGCATCCTTGGATTCT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	290	0.0035	-15	c.213 others(34): Show c.213+10910_213+10924delCTGCATCCTTGGATT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32282199	CTTCTTTT others(8): Show CTTCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG02015.hp1 others(19): Show HG00323.hp2 HG01358.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02129.hp2 HG02602.hp2 HG02683.hp2 HG03688.hp2 NA18944.hp2 NA18947.hp1 NA18968.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18998.hp2 NA18999.hp2 NA19011.hp2 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(8): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027	a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 others(19): Show a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 a0001c0002t0001g0178 a0001c0002t0002g0063 a0001c0002t0002g0073 a0001c0002t0002g0195 a0001c0002t0002g0207 a0001c0002t0002g0253 a0001c0002t0002g0282 a0001c0002t0005g0008 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0141 a0001c0002t0005g0248 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0021g0249 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0026g0013 a0001c0002t0027g0120	22	290	0.0759	-15	c.427 others(34): Show c.427-11792_427-11778delCTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32282202	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0121 a0001c0002t0002g0121	1	290	0.0035	-15	c.427 others(34): Show c.427-11770_427-11756delTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32283359	ACCACTCC others(8): Show ACCACTCCACTCCACT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0098 a0001c0001t0038g0098	1	290	0.0035	-15	c.427 others(34): Show c.427-10614_427-10600delCCACTCCACTCCACT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32300631	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0144 a0001c0001t0008g0144	1	290	0.0035	-15	c.580 others(32): Show c.580-5051_580-5037delTTTTTTTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793122	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	270	0.0037	-15	c.-10 others(36): Show c.-102+11046_-102+11060delTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42844508	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG03540.hp1 others(3): Show HG02647.hp2 HG03486.hp1 HG03540.hp1 NA18974.hp2 NA18982.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0005t0026 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0026 a0002c0003t0004 a0002c0003t0007	a0001c0001t0001g0046 a0001c0001t0002g0043 a0001c0001t0002g0052 others(3): Show a0001c0001t0001g0046 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0005t0026g0026 a0002c0003t0004g0040 a0002c0003t0007g0039	6	270	0.0222	-15	c.184 others(34): Show c.1840-7561_1840-7547delAAAAAAAAAAAAAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG02258.hp2 others(6): Show HG00738.hp1 HG01123.hp2 HG02258.hp2 HG02451.hp1 HG02922.hp2 HG03209.hp2 NA19043.hp1 NA19056.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0021 a0001c0001t0001 a0001c0001t0002 a0002c0003t0021	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0270 a0001c0001t0002g0004 a0002c0003t0021g0036	9	270	0.0333	-15	c.184 others(34): Show c.1840-6858_1840-6844delTTTTTTTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47659723	CACACACA others(8): Show CACACACACACGTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0033 a0003c0033	a0003c0033t0004 a0003c0033t0004	a0003c0033t0004g0021 a0003c0033t0004g0021	1	312	0.0032	-15	c.-10 others(36): Show c.-107-10719_-107-10705delACACACACACGTTCT	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14			chr19	TogoVar
BID_chr22_17729138_17779469	17756417	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00558.hp1 others(13): Show HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG00741.hp2 HG01255.hp1 HG01358.hp2 HG02615.hp2 HG04115.hp1 NA18747.hp1 NA18943.hp2 NA18956.hp1 NA18983.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0060 others(13): Show a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0282	16	362	0.0442	-15	c.-58 others(32): Show c.-58-6258_-58-6244delGAAAGAAAGAAAGAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIK_chr22_43105750_43134712	43125731	GAGAAAGA others(8): Show GAGAAAGAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG03041.hp2 others(3): Show HG02717.hp2 HG02809.hp1 HG03041.hp2 HG03195.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0003g0084 others(2): Show a0001c0001t0003g0034 a0001c0001t0003g0067 a0001c0001t0003g0084 a0001c0001t0003g0094 a0001c0001t0003g0157	6	386	0.0155	-15	c.161 others(32): Show c.161+1556_161+1570delGAAAAGAAAGAAAGA	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
BIK_chr22_43105750_43134712	43130417	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 NA18987.hp2 HG02615.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0189 a0001c0001t0001g0108 a0001c0001t0002g0189	2	386	0.0052	-15	c.11 others(26): Show c.1113_*1127delTTTTTTTTTTTTTTT	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding		706		chr22	TogoVar
BIN1_chr2_127043032_127112154	127107102	CCGGACGG others(8): Show CCGGACGGGCGAGCGA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0018 a0001c0002t0006g0018	1	344	0.0029	-15	c.-17 others(24): Show c.-174_-160delTCGCTCGCCCGTCCG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/19	160		chr2	TogoVar
BIN3_chr8_22615418_22674121	22616882	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0129	1	386	0.0026	-15	c.45 others(26): Show c.4525_*4539delCAAAAAAAAAAAAAA	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding		3535		chr8	TogoVar
BIN3_chr8_22615418_22674121	22616883	TTTTTTTT others(8): Show TTTTTTTTTTTTTTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG01891.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0024 a0003c0010t0025 a0001c0002t0024 a0003c0010t0025	a0001c0002t0024g0133 a0003c0010t0025g0224 a0001c0002t0024g0133 a0003c0010t0025g0224	2	386	0.0052	-15	c.45 others(26): Show c.4524_*4538delCCAAAAAAAAAAAAA	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding		3534		chr8	TogoVar
BIRC2_chr11_102342214_102383670	102349272	GTGTGAAC others(8): Show GTGTGAACTTAGCTTT	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18949.hp2 NA18982.hp2 NA18983.hp2 others(1): Show NA18949.hp2 NA18982.hp2 NA18983.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0061 others(1): Show a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0004g0061 a0001c0001t0004g0213	4	344	0.0116	-15	c.-58 others(24): Show c.-581_-567delGTGAACTTAGCTTTT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	2/9	567	INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC5_chr17_78209253_78230635	78224041	TTTTTTTG others(8): Show TTTTTTTGTTGTTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0008 a0001c0001t0044g0008	1	432	0.0023	-15	c.49 others(24): Show c.494_*508delGTTGTTGTGTTTTTT	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	4/4	494	INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC6_chr2_32352023_32623878	32460993	CTCTGCTC others(8): Show CTCTGCTCTCTTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0148 a0002c0002t0002g0148	1	274	0.0037	-15	c.475 others(34): Show c.4754-2197_4754-2183delGCTCTCTTCTCTTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461063	TTCTGTTC others(8): Show TTCTGTTCTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02922.hp1 others(1): Show HG02257.hp2 HG02622.hp1 HG02922.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0013 a0002c0002 a0004c0019 a0001c0013 a0002c0002 a0004c0019	a0001c0013t0003 a0002c0002t0003 a0004c0019t0003 a0001c0013t0003 a0002c0002t0003 a0004c0019t0003	a0001c0013t0003g0036 a0002c0002t0003g0150 a0004c0019t0003g0142 others(1): Show a0001c0013t0003g0036 a0002c0002t0003g0150 a0004c0019t0003g0142 a0004c0019t0003g0144	4	274	0.0146	-15	c.475 others(34): Show c.4754-2127_4754-2113delGTTCTCCTCTCCTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	TTCTCCTC others(8): Show TTCTCCTCTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG03540.hp1 HG02895.hp2 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0115 a0001c0012t0003g0116 a0001c0012t0003g0272 a0001c0012t0003g0115 a0001c0012t0003g0116 a0001c0012t0003g0272	3	274	0.0110	-15	c.475 others(34): Show c.4754-2078_4754-2064delTCCTCTCCTCTCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461121	TCCTCTCC others(8): Show TCCTCTCCTCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG06807.hp1 HG02717.hp1 HG06807.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0176 a0001c0021t0002g0178 a0001c0021t0002g0176 a0001c0021t0002g0178	2	274	0.0073	-15	c.475 others(34): Show c.4754-2068_4754-2054delTCCTCCCCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	274	0.0037	-15	c.740 others(32): Show c.7409-676_7409-662delTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	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	-15	c.131 others(36): Show c.13144+3739_13144+3753delAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11504367	GAAAGAAA others(8): Show GAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02970.hp1 others(3): Show HG02622.hp2 HG02818.hp1 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0004 a0001c0001t0005 a0001c0004t0013 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0004t0013 a0004c0009t0004	a0001c0001t0004g0086 a0001c0001t0005g0085 a0001c0004t0013g0076 others(3): Show a0001c0001t0004g0086 a0001c0001t0005g0085 a0001c0004t0013g0076 a0001c0004t0013g0077 a0004c0009t0004g0083 a0004c0009t0004g0084	6	308	0.0195	-15	c.-2+ others(30): Show c.-2+9810_-2+9824delGAAAAGAAAAGAAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11533590	GAGGAGGA others(8): Show GAGGAGGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18982.hp1 HG02523.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0162 a0001c0001t0001g0163	2	308	0.0065	-15	c.-1- others(30): Show c.-1-9622_-1-9608delGAGAAGGAGGAGGAG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90738564	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02886.hp1 HG02976.hp1 HG01496.hp1 HG02886.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006	3	280	0.0107	-15	c.-4- others(30): Show c.-4-8800_-4-8786delCAAAACAAAACAAAA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90785998	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02976.hp2 others(2): Show HG02145.hp1 HG02723.hp1 HG02976.hp2 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0010 a0001c0009 a0001c0010	a0001c0009t0001 a0001c0010t0001 a0001c0009t0001 a0001c0010t0001	a0001c0009t0001g0080 a0001c0009t0001g0277 a0001c0010t0001g0041 others(2): Show a0001c0009t0001g0080 a0001c0009t0001g0277 a0001c0010t0001g0041 a0001c0010t0001g0042 a0001c0010t0001g0043	5	280	0.0179	-15	c.282 others(32): Show c.2823+926_2823+940delTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar

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