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
BAZ2B_chr2_159313979_159621548	159491720	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03516.hp2 HG02055.hp2 HG03516.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0015c0025 a0001c0001 a0015c0025	a0001c0001t0002 a0015c0025t0001 a0001c0001t0002 a0015c0025t0001	a0001c0001t0002g0133 a0015c0025t0001g0116 a0001c0001t0002g0133 a0015c0025t0001g0116	2	216	0.0093	18	c.-2- others(35): Show c.-2-13017_-2-13000dupTTTTTTTTTTTTTTTTTT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBC3_chr19_47215824_47236199	47228995	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0223 a0001c0001t0033g0223	1	412	0.0024	18	c.-15 others(33): Show c.-15-550_-15-549insGTGTGTGTGTGTGTGTGT	BBC3	ENSG00000105327.18	transcript	ENST00000439096.3	protein_coding	1/3			chr19	TogoVar
BBOF1_chr14_74014349_74071092	74035584	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG02809.hp2 HG03041.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0004 a0004c0007t0003g0006 a0004c0007t0003g0004 a0004c0007t0003g0006	2	386	0.0052	18	c.495 others(35): Show c.495+1424_495+1441dupTTTTTTTTTTTTTTTTTT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27054234	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG01168.hp2 others(17): Show HG00408.hp1 HG00621.hp1 HG01168.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG02074.hp1 HG02258.hp1 HG02976.hp1 HG03239.hp2 HG03669.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18942.hp2 NA18970.hp1 NA19006.hp2 NA19056.hp1 NA19079.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0003 a0001c0006t0001 a0001c0006t0003	a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0091 others(17): Show a0001c0001t0001g0055 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0003g0238 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0005t0003g0264 a0001c0006t0001g0054 a0001c0006t0003g0119 a0001c0006t0003g0277 a0001c0006t0003g0278	20	318	0.0629	18	c.-38 others(35): Show c.-38-1158_-38-1157insTGTGTGTGTGTGTGTGCG	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(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0292 a0001c0004t0001g0292	1	318	0.0031	18	c.220 others(33): Show c.220-138_220-137insAAAAAAAAAAAAAAAAAA	BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	3/8			chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0063 a0003c0003t0003g0063	1	364	0.0028	18	c.-11 others(33): Show c.-11+524_-11+541dupCACACACACACACACACA	BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS2_chr16_56479385_56525024	56480350	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	398	0.0025	18	c.44 others(29): Show c.4410_*4411insTGTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4034		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	398	0.0025	18	c.44 others(29): Show c.4408_*4409insTTTTTTTTTTTTTTTTTT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACAAAAA others(11): Show CACAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01258.hp1 others(4): Show HG00639.hp2 HG01192.hp2 HG01258.hp1 HG03486.hp1 NA18989.hp2 NA19012.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0219 a0001c0001t0001g0225	7	398	0.0176	18	c.44 others(29): Show c.4408_*4409insTTTTTTTTTTTTTTTTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS2_chr16_56479385_56525024	56480352	C C	CACACAAA others(11): Show CACACAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA19091.hp2 NA20752.hp1 HG03579.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0004 a0001c0001t0001g0009	3	398	0.0075	18	c.44 others(29): Show c.4408_*4409insTTTTTTTTTTTTTTGTGT	BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding		4032		chr16	TogoVar
BBS4_chr15_72681207_72743473	72687124	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(112): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA19075.hp1 NA19080.hp1 NA19083.hp1 NA19086.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0009 a0003c0005t0003 a0004c0006t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0277 others(111): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0352 a0001c0001t0003g0356 a0001c0001t0006g0385 a0001c0001t0010g0268 a0001c0001t0011g0184 a0001c0004t0001g0383 a0001c0004t0001g0386 a0002c0002t0001g0002 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0004g0201 a0002c0002t0004g0243 a0002c0002t0004g0255 a0002c0002t0009g0236 a0003c0005t0003g0350 a0003c0005t0003g0351 a0004c0006t0001g0196 a0004c0006t0001g0209	115	398	0.2889	18	c.24+ others(31): Show c.24+883_24+884insTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72688411	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01123.hp2 others(17): Show HG00642.hp2 HG01070.hp2 HG01123.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG02300.hp1 HG02559.hp2 HG03688.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18947.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp1 NA18989.hp1 NA19043.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0010c0013t0001 a0001c0001t0001 a0010c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0035 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0151 a0010c0013t0001g0031	20	398	0.0503	18	c.24+ others(33): Show c.24+2163_24+2180dupTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72702802	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(32): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp2 HG01123.hp2 HG01517.hp1 HG01928.hp1 HG01978.hp1 HG02132.hp2 HG02135.hp2 HG02622.hp1 HG03195.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18969.hp1 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18983.hp1 NA18992.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19055.hp2 NA19056.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp1 NA19091.hp1 NA19240.hp2	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0001c0007 a0006c0010 others(1): Show a0001c0001 a0001c0007 a0006c0010 a0008c0012	a0001c0001t0001 a0001c0007t0001 a0006c0010t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0006c0010t0001 a0008c0012t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(32): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0007t0001g0052 a0001c0007t0001g0053 a0006c0010t0001g0089 a0008c0012t0001g0032	35	398	0.0879	18	c.77- others(33): Show c.77-6892_77-6875dupTTTTTTTTTTTTTTTTTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS9_chr7_33124564_33611069	33188080	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00642.hp2 others(17): Show HG00544.hp2 HG00639.hp2 HG00642.hp2 HG01517.hp1 HG01981.hp1 HG02165.hp1 HG02523.hp1 HG02572.hp2 HG02922.hp1 HG03017.hp2 HG03490.hp2 HG03669.hp2 HG03688.hp1 HG04199.hp1 HG04199.hp2 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18982.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011	a0001c0001t0001g0221 a0001c0001t0001g0256 a0001c0001t0003g0009 others(17): Show a0001c0001t0001g0221 a0001c0001t0001g0256 a0001c0001t0003g0009 a0001c0001t0006g0243 a0002c0002t0001g0219 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0004g0001 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0011g0015	20	268	0.0746	18	c.442 others(37): Show c.442+10504_442+10521dupTGTGTGTGTGTGTGTGTG	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33231428	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	268	0.0037	18	c.443 others(37): Show c.443-25791_443-25790insTTTTTTTTTTTTTTTTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536676	G G	GGCCTTCC others(11): Show GGCCTTCCCCCCGCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00558.hp1 others(78): Show HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG01074.hp2 HG01106.hp1 HG01358.hp1 HG01517.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03239.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18980.hp1 NA18980.hp2 NA18993.hp2 NA18995.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp2 NA19054.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0006 a0007 a0008 a0011 a0015	a0001c0001 a0001c0010 a0001c0020 others(10): Show a0001c0001 a0001c0010 a0001c0020 a0001c0023 a0001c0025 a0002c0002 a0002c0017 a0004c0004 a0006c0005 a0007c0006 a0008c0007 a0011c0024 a0015c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0010t0001 a0001c0020t0002 a0001c0023t0001 a0001c0025t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0017t0001 a0004c0004t0001 a0006c0005t0007 a0007c0006t0001 a0007c0006t0002 a0008c0007t0001 a0008c0007t0002 a0011c0024t0011 a0015c0015t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(78): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0256 a0001c0001t0002g0048 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0152 a0001c0001t0002g0172 a0001c0001t0002g0190 a0001c0001t0002g0223 a0001c0001t0002g0264 a0001c0001t0003g0009 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0004g0007 a0001c0001t0005g0202 a0001c0001t0006g0053 a0001c0001t0006g0102 a0001c0001t0007g0228 a0001c0010t0001g0167 a0001c0020t0002g0069 a0001c0023t0001g0168 a0001c0025t0003g0030 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0003g0004 a0002c0002t0003g0026 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0011g0017 a0002c0017t0001g0267 a0004c0004t0001g0182 a0004c0004t0001g0183 a0006c0005t0007g0139 a0007c0006t0001g0115 a0007c0006t0002g0090 a0008c0007t0001g0150 a0008c0007t0002g0046 a0011c0024t0011g0024 a0015c0015t0001g0100	81	268	0.3022	18	c.252 others(37): Show c.2521+2505_2521+2522dupTCCCCCCGCCCCCCGCCT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33536681	T T	TCCCCCCG others(11): Show TCCCCCCGCCCCCCGCCTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	268	0.0037	18	c.252 others(37): Show c.2521+2511_2521+2528dupCGCCCCCCGCCTCCCCCC	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107778994	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0208 a0001c0001t0014g0208	1	222	0.0045	18	c.220 others(35): Show c.2203+485_2203+502dupTATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797335	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	222	0.0045	18	c.235 others(37): Show c.2354-1187_2354-1186insTATATATATATATATATA	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03516.hp2 HG03710.hp1 others(4): Show HG03453.hp1 HG03516.hp2 HG03710.hp1 HG06807.hp2 NA18963.hp2 NA18991.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0060 a0001c0001t0001g0165 a0001c0001t0001g0206 others(4): Show a0001c0001t0001g0060 a0001c0001t0001g0165 a0001c0001t0001g0206 a0001c0001t0002g0139 a0001c0001t0002g0177 a0001c0001t0002g0220 a0001c0001t0011g0184	7	222	0.0315	18	c.235 others(37): Show c.2354-1176_2354-1159dupTATATATATATATATATA	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(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0049 a0001c0001t0006g0049	1	222	0.0045	18	c.235 others(37): Show c.2354-1159_2354-1158insTATATATATATATATATG	BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17			chr3	TogoVar
BCAN_chr1_156637117_156664528	156643631	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	420	0.0024	18	c.-9+ others(33): Show c.-9+1357_-9+1358insGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAN_chr1_156637117_156664528	156643633	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19085.hp2 HG00408.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0141 a0001c0001t0002g0142	2	420	0.0048	18	c.-9+ others(33): Show c.-9+1359_-9+1360insGAGAGAGAGAGAGAGAGA	BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	398	0.0025	18	c.590 others(33): Show c.590-892_590-891insATATATATATATATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612437	A A	ATATATAT others(11): Show ATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	398	0.0025	18	c.590 others(33): Show c.590-892_590-891insATATATATATTTATTTAT	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR3_chr1_93556741_93686837	93573609	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0064 a0002c0014t0001g0064	1	202	0.0050	18	c.180 others(37): Show c.1803-1786_1803-1769dupTAATAATAATAATAATAA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	8/11			chr1	TogoVar
BCAR3_chr1_93556741_93686837	93573609	T T	TTTTTTAT others(11): Show TTTTTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0009 a0002c0006t0001g0009	1	202	0.0050	18	c.180 others(37): Show c.1803-1769_1803-1768insTAATAATAATAATAAAAA	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	8/11			chr1	TogoVar
BCAR3_chr1_93556741_93686837	93593728	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	202	0.0050	18	c.358 others(35): Show c.358-1353_358-1336dupGTTGTTGTTGTTGTTGTT	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	3/11			chr1	TogoVar
BCAS1_chr20_53938541_54075594	53941411	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0259 a0001c0001t0009g0259	1	364	0.0028	18	c.35 others(29): Show c.3510_*3511insGCGCGCGCACACACACAC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding		2129		chr20	TogoVar
BCAS1_chr20_53938541_54075594	53954294	G G	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03516.hp1 HG00621.hp2 HG03516.hp1	a0005 a0019 a0005 a0019	a0005c0005 a0019c0022 a0005c0005 a0019c0022	a0005c0005t0056 a0019c0022t0012 a0005c0005t0056 a0019c0022t0012	a0005c0005t0056g0267 a0019c0022t0012g0233 a0005c0005t0056g0267 a0019c0022t0012g0233	2	364	0.0055	18	c.155 others(35): Show c.1552-617_1552-600dupTCTCTCTCTCTCTCTCTC	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	53994888	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0151 a0001c0001t0025g0151	1	364	0.0028	18	c.927 others(33): Show c.927+106_927+123dupGTGTGTGTGTGTGTGTGT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	6/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54041908	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01433.hp2 HG01123.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0001 a0001c0001t0031	a0001c0001t0001g0245 a0001c0001t0031g0251 a0001c0001t0001g0245 a0001c0001t0031g0251	2	364	0.0055	18	c.143 others(37): Show c.143-12937_143-12936insTTTTTTTTTTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	3/12			chr20	TogoVar
BCAS2_chr1_114562557_114586615	114576431	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp1 HG02922.hp1 others(1): Show HG02622.hp1 HG02886.hp1 HG02922.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0214 others(1): Show a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0005g0211	4	414	0.0097	18	c.257 others(33): Show c.257+239_257+256dupTAATAATAATAATAATAA	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	3/6			chr1	TogoVar
BCAS2_chr1_114562557_114586615	114583493	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG06807.hp2 HG01891.hp2 HG02572.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0054 a0001c0001t0003g0024 a0001c0001t0002g0054 a0001c0001t0003g0024	3	414	0.0073	18	c.-19 others(29): Show c.-1920_-1903dupGTGTGTGTGTGTGTGTGT	BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding		1879		chr1	TogoVar
BCAS3_chr17_60672851_61397831	60700185	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	74	0.0135	18	c.215 others(35): Show c.215-9034_215-9033insAAAAAAAAAAAAAAAAAG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	4/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	60712164	C C	CAAAACAA others(11): Show CAAAACAAAAACAAAAACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	74	0.0135	18	c.321 others(35): Show c.321+2846_321+2863dupAAAACAAAAACAAAAACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60802371	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp2 NA19240.hp1 HG01891.hp2 HG03130.hp2 NA19240.hp1	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0001 a0002c0005t0001 a0002c0007t0001	a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0007t0001g0004 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0007t0001g0004	3	74	0.0405	18	c.404 others(35): Show c.404-5632_404-5615dupATATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814304	T T	TGCGCGCG others(11): Show TGCGCGCGCGCGCGTGTGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0072 a0001c0004t0002g0072	1	74	0.0135	18	c.476 others(35): Show c.476+6229_476+6230insCGCGCGCGCGCGTGTGCG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60814306	T T	TGCGCGCG others(11): Show TGCGCGCGTGCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp2 HG03130.hp2 others(2): Show HG01891.hp2 HG03041.hp2 HG03130.hp2 NA19030.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0007 a0002c0003 a0002c0005 a0002c0007	a0002c0003t0001 a0002c0005t0001 a0002c0007t0001 a0002c0003t0001 a0002c0005t0001 a0002c0007t0001	a0002c0003t0001g0052 a0002c0005t0001g0018 a0002c0005t0001g0019 others(2): Show a0002c0003t0001g0052 a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0007t0001g0004	5	74	0.0676	18	c.476 others(35): Show c.476+6240_476+6241insGTGCGCGCGCGCGCGTGC	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60955386	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG01891.hp2 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0002 a0002c0007t0001 a0001c0002t0002 a0002c0007t0001	a0001c0002t0002g0053 a0002c0007t0001g0004 a0001c0002t0002g0053 a0002c0007t0001g0004	2	74	0.0270	18	c.122 others(37): Show c.1221+8036_1221+8053dupTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60967949	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp1 HG03139.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0001 a0001c0002t0002 a0002c0003t0001	a0001c0002t0002g0001 a0002c0003t0001g0041 a0001c0002t0002g0001 a0002c0003t0001g0041	2	74	0.0270	18	c.122 others(39): Show c.1221+20609_1221+20626dupGTTGTTGTTGTTGTTGTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	74	0.0135	18	c.202 others(37): Show c.2029+3574_2029+3575insAAAAAAAAAATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61045823	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02886.hp1 HG01256.hp2 HG02886.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0001 a0002c0003 a0003c0001	a0002c0003t0003 a0003c0001t0001 a0002c0003t0003 a0003c0001t0001	a0002c0003t0003g0013 a0003c0001t0001g0031 a0002c0003t0003g0013 a0003c0001t0001g0031	2	74	0.0270	18	c.202 others(37): Show c.2029+4941_2029+4958dupCTCTCTCTCTCTCTCTCT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067273	G G	GTGTGTGT others(11): Show GTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp2 HG02818.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0066 a0001c0002t0002g0070 a0001c0002t0001g0066 a0001c0002t0002g0070	2	74	0.0270	18	c.203 others(37): Show c.2030-7646_2030-7645insGTGTGTATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61070366	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA19030.hp1 NA19043.hp1 others(2): Show HG00639.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0001 a0001c0002 a0001c0004 a0003c0001	a0001c0002t0001 a0001c0004t0001 a0003c0001t0001 a0001c0002t0001 a0001c0004t0001 a0003c0001t0001	a0001c0002t0001g0060 a0001c0004t0001g0043 a0003c0001t0001g0005 others(2): Show a0001c0002t0001g0060 a0001c0004t0001g0043 a0003c0001t0001g0005 a0003c0001t0001g0010 a0003c0001t0001g0025	5	74	0.0676	18	c.203 others(37): Show c.2030-4537_2030-4520dupATATATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61271424	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	74	0.0135	18	c.242 others(39): Show c.2426-96890_2426-96889insTTTTTTTTTTTTTTTTTT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61285231	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02818.hp1 others(6): Show HG01891.hp2 HG02451.hp1 HG02818.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0002c0007 a0003c0001	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(3): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0007t0001 a0003c0001t0001	a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 others(6): Show a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0004t0001g0043 a0001c0004t0002g0050 a0002c0003t0001g0033 a0002c0003t0001g0041 a0002c0007t0001g0004 a0003c0001t0001g0024	9	74	0.1216	18	c.242 others(39): Show c.2426-83086_2426-83069dupGTGTGTGTGTGTGTGTGT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61322834	G G	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0021 a0003c0001t0001g0021	1	74	0.0135	18	c.242 others(39): Show c.2426-45476_2426-45475insCAGAGAGAGAGAGAGAGA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGCGCGC others(11): Show GTGCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0045 a0001c0004t0001g0045	1	74	0.0135	18	c.259 others(37): Show c.2593+6754_2593+6755insCGCGCGCGCGCACACATG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61375246	G G	GTGTGCGC others(11): Show GTGTGCGCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0015 a0002c0003t0001g0016	2	74	0.0270	18	c.259 others(37): Show c.2593+6756_2593+6757insCGCGCGCGCGCACATGTG	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr17	TogoVar

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