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
BABAM2_chr2_27885729_28343901	28112197	C C	CCTTCCCT others(33): Show CCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	158	0.0063	40	c.571 others(59): Show c.571-17073_571-17072insTTCCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTC	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BACE2_chr21_41163160_41287530	41179506	G G	GGGGTGAG others(33): Show GGGGTGAGTGAGGGTGTCCAGGGTGAGGAGTGAGGGTGTCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01106.hp1 others(17): Show HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01261.hp1 HG01515.hp1 HG01934.hp1 HG02257.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG03041.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0035 a0001c0002t0001 a0001c0002t0023 a0001c0002t0055 a0001c0002t0060	a0001c0001t0001g0165 a0001c0001t0001g0234 a0001c0001t0002g0156 others(17): Show a0001c0001t0001g0165 a0001c0001t0001g0234 a0001c0001t0002g0156 a0001c0001t0003g0153 a0001c0001t0003g0224 a0001c0001t0006g0097 a0001c0001t0006g0189 a0001c0001t0006g0196 a0001c0001t0006g0199 a0001c0001t0007g0050 a0001c0001t0035g0112 a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0139 a0001c0002t0001g0155 a0001c0002t0001g0166 a0001c0002t0001g0249 a0001c0002t0023g0176 a0001c0002t0055g0168 a0001c0002t0060g0143	20	272	0.0735	40	c.312 others(59): Show c.312+10958_312+10997dupGAGTGAGGGTGTCAGGGTGAGTGAGG GTGTCCAGGGTGAG	BACE2	ENSG00000182240.16	transcript	ENST00000330333.11	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr21	TogoVar
BACH2_chr6_89921528_90301843	90103029	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19043.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0007 a0001c0003 a0002c0007	a0001c0003t0036 a0002c0007t0028 a0001c0003t0036 a0002c0007t0028	a0001c0003t0036g0068 a0002c0007t0028g0002 a0001c0003t0036g0068 a0002c0007t0028g0002	2	194	0.0103	40	c.-16 others(61): Show c.-161-13921_-161-13920insAAAAAAAAAAAATATATATATATA TATATATATATATATA	BACH2	ENSG00000112182.16	transcript	ENST00000257749.9	protein_coding	4/8			chr6	TogoVar
BAG3_chr10_119646380_119682819	119675877	T T	TCCCCTTC others(33): Show TCCCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0089 a0002c0003t0002g0089	1	420	0.0024	40	c.910 others(55): Show c.910-571_910-570insCCCCTTCCCCTTTTCCCCCCTTCCCCCCTT CCTTCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	420	0.0024	40	c.910 others(55): Show c.910-555_910-554insCCTTTTCCCCCCTTCCCCCCTTCCTTCCTT CCCCCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG3_chr10_119646380_119682819	119675919	T T	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20300.hp2 HG02055.hp1 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0019 a0002c0003 a0002c0019	a0002c0003t0002 a0002c0019t0006 a0002c0003t0002 a0002c0019t0006	a0002c0003t0002g0069 a0002c0019t0006g0085 a0002c0003t0002g0069 a0002c0019t0006g0085	2	420	0.0048	40	c.910 others(55): Show c.910-542_910-541insTCCTTCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCT	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAIAP2L1_chr7_98286650_98406090	98357020	A A	AAAAAAAA others(33): Show AAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	298	0.0034	40	c.128 others(57): Show c.128-1893_128-1892insATATATATATATATATATATATATATAT ATATATTTTTTT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	2/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98393120	T T	TGTATATA others(33): Show TGTATATATGTACACACATATGTGTACATATATGTACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA21309.hp1 HG02615.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0021 a0001c0005t0012 a0001c0005t0021	a0001c0005t0012g0085 a0001c0005t0021g0084 a0001c0005t0012g0085 a0001c0005t0021g0084	2	298	0.0067	40	c.51+ others(55): Show c.51+7681_51+7682insGTGTGTACATATATGTACACATATGTGTGT ACATATATAC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2_chr17_81030151_81122434	81104976	A A	AGCAGGGA others(33): Show AGCAGGGATCTCCCCCCAACGGCAGGGATCTCCCCCCAACG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0194 a0001c0003t0001g0194	1	376	0.0027	40	c.126 others(57): Show c.1268+296_1268+297insCAACGGCAGGGATCTCCCCCCAACGGCA GGGATCTCCCCC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1349468	C C	CAAACCTC others(33): Show CAAACCTCAGCCGGGGCCCTGGCCTCAGCCCCCCGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	358	0.0028	40	c.98 others(49): Show c.986_*987insAAACCTCAGCCGGGGCCCTGGCCTCAGCCCCCCGTC CCTG	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding		30		chr16	TogoVar
BANK1_chr4_101785730_102079812	102007148	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0256 a0003c0004t0001g0256	1	284	0.0035	40	c.120 others(61): Show c.1207-14344_1207-14343insTATATATATATATATATCTATATA TATATATATATATATA	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88077037	A A	AGGAGCCC others(33): Show AGGAGCCCTTTGCTGTGTGCTCTGTCCAGTGTCATGAGACG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 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.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0017 a0001c0026 a0001c0030 a0001c0031 a0001c0033 a0002c0013 a0002c0015 a0002c0019 a0002c0028 a0002c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0004t0004 a0001c0004t0012 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0008t0004 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0001c0014t0019 a0001c0017t0001 a0001c0026t0004 a0001c0030t0001 a0001c0031t0001 a0001c0033t0001 a0002c0013t0001 a0002c0015t0002 a0002c0019t0017 a0002c0019t0018 a0002c0028t0015 a0002c0029t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 others(233): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0288 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0181 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0247 a0001c0001t0006g0263 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0013g0205 a0001c0002t0001g0047 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0044 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0002t0002g0066 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0008g0010 a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0025 a0001c0002t0008g0036 a0001c0002t0008g0043 a0001c0002t0008g0051 a0001c0004t0004g0060 a0001c0004t0004g0061 a0001c0004t0004g0062 a0001c0004t0004g0115 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0144 a0001c0004t0004g0145 a0001c0004t0004g0148 a0001c0004t0004g0150 a0001c0004t0004g0152 a0001c0004t0004g0153 a0001c0004t0004g0154 a0001c0004t0004g0155 a0001c0004t0004g0157 a0001c0004t0004g0166 a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0349 a0001c0004t0012g0135 a0001c0004t0012g0140 a0001c0006t0002g0001 a0001c0006t0002g0005 a0001c0006t0002g0067 a0001c0006t0002g0071 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0075 a0001c0006t0002g0077 a0001c0006t0002g0078 a0001c0006t0002g0079 a0001c0006t0002g0083 a0001c0006t0002g0128 a0001c0006t0002g0280 a0001c0006t0002g0281 a0001c0006t0002g0337 a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0124 a0001c0007t0001g0339 a0001c0007t0002g0211 a0001c0007t0002g0215 a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273 a0001c0008t0001g0275 a0001c0008t0001g0347 a0001c0008t0004g0146 a0001c0009t0001g0189 a0001c0011t0001g0040 a0001c0012t0001g0011 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0014t0001g0092 a0001c0014t0001g0095 a0001c0014t0019g0199 a0001c0017t0001g0026 a0001c0017t0001g0242 a0001c0026t0004g0133 a0001c0030t0001g0084 a0001c0031t0001g0162 a0001c0033t0001g0178 a0002c0013t0001g0169 a0002c0013t0001g0170 a0002c0013t0001g0172 a0002c0015t0002g0065 a0002c0019t0017g0086 a0002c0019t0018g0085 a0002c0028t0015g0087 a0002c0029t0001g0173	238	352	0.6761	40	c.49 others(49): Show c.494_*533dupACGGGAGCCCTTTGCTGTGTGCTCTGTCCAGTGTCA TGAG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	14/14	534	INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88077173	G G	GTGCTCTG others(33): Show GTGCTCTGTCCAGTGTCATGAGACGGGAGCCCTTTGCTGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0193 a0001c0001t0014g0193	1	352	0.0028	40	c.53 others(49): Show c.533_*534insACGGGAGCCCTTTGCTGTCTGCTCTGTCCAGTGTCA TGAG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	14/14	534	INFO_REALIGN_3_PRIME	chr16	TogoVar
BARX1_chr9_93946627_93960355	93960162	G G	GCAACAGA others(33): Show GCAACAGATCCAGACCCCGTCTCTTAACCAAAATAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	40	c.-50 others(51): Show c.-5017_-5016insATTTATTATTTTGGTTAAGAGACGGGGTCTGGAT CTGTTG	BARX1	ENSG00000131668.14	transcript	ENST00000253968.11	protein_coding		4808		chr9	TogoVar
BATF3_chr1_212681417_212704840	212687967	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	462	0.0022	40	c.196 others(55): Show c.196-989_196-988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	BATF3	ENSG00000123685.9	transcript	ENST00000243440.2	protein_coding	2/2			chr1	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(33): Show CACACACACACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0362 a0001c0004t0004g0362	1	380	0.0026	40	c.393 others(57): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATGTGTGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ1A_chr14_34747731_34880360	34832215	C C	CACACACA others(33): Show CACACACATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0033 a0001c0004t0004g0033	1	380	0.0026	40	c.393 others(57): Show c.393-6060_393-6059insATATATATATATATATATATATATATAT ATATATGTGTGT	BAZ1A	ENSG00000198604.11	transcript	ENST00000360310.6	protein_coding	3/26			chr14	TogoVar
BAZ2B_chr2_159313979_159621548	159501166	A A	AATATATA others(33): Show AATATATATTATATATATTTATATATAATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	216	0.0046	40	c.-2- others(57): Show c.-2-22485_-2-22446dupAAAAATATATATATTATATATAAATATA TATAATATATAT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BBS4_chr15_72681207_72743473	72725786	T T	TCTTCCCC others(33): Show TCTTCCCCTTCCTCCTTCCCTCTTCCCCCATCCCCCTTTCC	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	398	0.0025	40	c.587 others(57): Show c.587+1132_587+1133insTTCCCCTTCCTCCTTCCCTCTTCCCCCA TCCCCCTTTCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725864	C C	CCTTCCCC others(33): Show CCTTCCCCCTTCCCCCTTCCTCTTCCCCTTCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18942.hp1 NA18949.hp2 others(13): Show HG02080.hp2 NA18942.hp1 NA18949.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18973.hp1 NA18990.hp2 NA18995.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19065.hp1 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0168 others(12): Show a0001c0001t0002g0003 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0314 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0333	16	398	0.0402	40	c.587 others(57): Show c.587+1212_587+1213insCCCCCTTCCCCCTTCCTCTTCCCCTTCC TCCTTCCCTCTT	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169505485	G G	GCCGCCAT others(33): Show GCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0146 a0001c0001t0032g0146	1	398	0.0025	40	c.93 others(49): Show c.932_*971dupGCCTCTTCCCACCCGCCATCCCATCTAGGAAGTGAG GAGC	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12	972	INFO_REALIGN_3_PRIME	chr2	TogoVar
BBS7_chr4_121819329_121875474	121855851	C C	CACATGTA others(33): Show CACATGTATGTGTATATATGTATATGTACATATATGTACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(76): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18961.hp2 NA18964.hp1 NA18979.hp2 NA18984.hp2 NA18985.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19005.hp2 NA19006.hp1 NA19012.hp1 NA19059.hp2 NA19064.hp2 NA19066.hp1 NA19075.hp2 NA19080.hp1 NA19083.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0003t0003	a0001c0001t0002g0233 a0001c0001t0003g0003 a0001c0001t0003g0004 others(55): Show a0001c0001t0002g0233 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0092 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0152 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0005g0100 a0001c0001t0005g0105 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0138 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0009g0029 a0001c0001t0009g0132 a0001c0001t0011g0210 a0001c0003t0003g0141	79	374	0.2112	40	c.529 others(55): Show c.529-330_529-291dupATGTACATATATGTACATATACATATATAC ACATACATGT	BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	5/18			chr4	TogoVar
BBS9_chr7_33124564_33611069	33569407	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03834.hp1 HG02602.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0001g0246 a0001c0001t0001g0263	2	268	0.0075	40	c.252 others(61): Show c.2521+35232_2521+35233insGTGTGTATATATATATATATATAT ATATATATATATATAT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591641	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02647.hp1 HG03139.hp2 others(2): Show HG02559.hp2 HG02647.hp1 HG03139.hp2 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0246 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0246 a0001c0001t0001g0342 a0001c0001t0001g0343	5	398	0.0126	40	c.194 others(57): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACAC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107591656	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02027.hp1 HG02280.hp2 others(1): Show HG01358.hp2 HG02027.hp1 HG02280.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0003g0105 a0001c0001t0003g0205 others(1): Show a0001c0001t0001g0024 a0001c0001t0003g0105 a0001c0001t0003g0205 a0001c0001t0003g0230	4	398	0.0101	40	c.194 others(57): Show c.194-2298_194-2297insACACACACACACACACACACACACACAC ACACACACACCC	BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS3_chr17_60672851_61397831	60973585	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	74	0.0135	40	c.122 others(61): Show c.1222-16386_1222-16385insTATATATATATATATATATATATA TATATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	14/23			chr17	TogoVar
BCAS3_chr17_60672851_61397831	61044465	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0074 a0002c0005t0002g0074	1	74	0.0135	40	c.202 others(59): Show c.2029+3574_2029+3575insAATATATATATATATATATATATATA TATATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24936712	A A	ATCTCTCT others(33): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0231 a0001c0001t0025g0231	1	322	0.0031	40	c.6+1 others(55): Show c.6+12214_6+12215insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	1/10			chr12	TogoVar
BCHE_chr3_165767904_165842423	165791988	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	2	304	0.0066	40	c.151 others(59): Show c.1518-5678_1518-5677insGTTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTT	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
BCKDHB_chr6_80101671_80351270	80107516	T T	TATATATA others(33): Show TATATATATATGCATATATATATATGCATATATATATATGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG03540.hp1 HG02615.hp2 HG02818.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0173	3	294	0.0102	40	c.196 others(55): Show c.196+637_196+638insGCATATATATATATGCATATATATATATGC ATATATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCKDHB_chr6_80101671_80351270	80107518	T T	TATATATA others(33): Show TATATATATATGCATATATATATATGCACACATATATATGC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0222 a0001c0001t0002g0222	1	294	0.0034	40	c.196 others(55): Show c.196+648_196+687dupATATATGCACACATATATATGCATATATAT ATGCATATAT	BCKDHB	ENSG00000083123.15	transcript	ENST00000320393.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
BCL11A_chr2_60452194_60558654	60467975	G G	GTGGTAGT others(33): Show GTGGTAGTGATGGTGCTGGTGGTCATGGTACTTTGTGGTGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0255 a0001c0002t0016g0255	1	262	0.0038	40	c.487 others(55): Show c.487+756_487+757insTCACCACAAAGTACCATGACCACCAGCACC ATCACTACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	458	0.0022	40	c.-43 others(51): Show c.-4377_-4376insAAAAAATATATATATATATATATATATATATATA TATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(33): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0011 a0002c0002t0002g0011	1	458	0.0022	40	c.-43 others(51): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAATATATATATATATA TATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L10_chr15_52104263_52117775	52117102	A A	ATATATAT others(33): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0128 a0002c0002t0014g0128	1	458	0.0022	40	c.-43 others(51): Show c.-4377_-4376insAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATA	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding		4328		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17720154	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01261.hp2 HG01433.hp1 others(9): Show HG01169.hp2 HG01261.hp2 HG01433.hp1 HG01516.hp2 HG02071.hp1 HG02280.hp1 HG02486.hp2 HG02818.hp2 HG03209.hp1 NA18952.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 others(5): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0020 a0001c0001t0022 a0001c0002t0006 a0001c0002t0012 a0001c0002t0025 a0001c0002t0027	a0001c0001t0008g0222 a0001c0001t0008g0226 a0001c0001t0008g0232 others(9): Show a0001c0001t0008g0222 a0001c0001t0008g0226 a0001c0001t0008g0232 a0001c0001t0008g0234 a0001c0001t0010g0225 a0001c0001t0020g0224 a0001c0001t0020g0231 a0001c0001t0022g0239 a0001c0002t0006g0077 a0001c0002t0012g0306 a0001c0002t0025g0074 a0001c0002t0027g0006	12	306	0.0392	40	c.601 others(57): Show c.601-6495_601-6494insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TAAATATA others(33): Show TAAATATATATATATATATATATATATAAATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	402	0.0025	40	c.-37 others(51): Show c.-3714_-3713insAAATATATATATATATATATATATATAAATATAT ATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATAAATA others(33): Show TATAAATATATATATATATTTATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0098 a0006c0014t0001g0098	1	402	0.0025	40	c.-37 others(51): Show c.-3714_-3713insATAAATATATATATATATTTATATATATATATAT ATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(33): Show TATATATAAATAAATATATATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01978.hp2 HG02055.hp1 others(1): Show HG01433.hp2 HG01978.hp2 HG02055.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0004 a0001c0002 a0001c0005 a0002c0004	a0001c0002t0001 a0001c0005t0001 a0002c0004t0001 a0001c0002t0001 a0001c0005t0001 a0002c0004t0001	a0001c0002t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 others(1): Show a0001c0002t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0137 a0002c0004t0001g0142	4	402	0.0100	40	c.-37 others(51): Show c.-3714_-3713insATATATAAATAAATATATATATATATATATATAT AAATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(33): Show TATATATATAAATAAATAAATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02622.hp2 HG02145.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0119 a0001c0005t0001g0155 a0001c0005t0001g0119 a0001c0005t0001g0155	2	402	0.0050	40	c.-37 others(51): Show c.-3714_-3713insATATATATAAATAAATAAATATATATATATATAT AAATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCO1_chr16_81233689_81296142	81235195	T T	TATATATA others(33): Show TATATATATAAATAAATATATATATATATATATATAAATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0125 a0001c0005t0001g0125	1	402	0.0025	40	c.-37 others(51): Show c.-3714_-3713insATATATATAAATAAATATATATATATATATATAT AAATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3493		chr16	TogoVar
BCOR_chrX_40046251_40102958	40046526	A A	ATATATAT others(33): Show ATATATATATATATATGTATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	257	0.0039	40	c.55 others(51): Show c.5582_*5583insCATATATATATATATATATATATACATATATATA TATATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4724		chrX	TogoVar
BCOR_chrX_40046251_40102958	40046578	A A	ATATGTAT others(33): Show ATATGTATATATATATATATATGTATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	257	0.0039	40	c.55 others(51): Show c.5530_*5531insCATATATATATATATATACATATATATATATATA TACATA	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		4672		chrX	TogoVar
BDH1_chr3_197504783_197560968	197510599	G G	GGTGTGTG others(33): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0176 a0001c0001t0176	a0001c0001t0176g0178 a0001c0001t0176g0178	1	319	0.0031	40	c.12 others(51): Show c.1256_*1295dupACACACACACACACACACACACACACACACACAC ACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1295		chr3	TogoVar
BDH1_chr3_197504783_197560968	197549975	T T	TTATTTTT others(33): Show TTATTTTTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0175 a0001c0001t0175	a0001c0001t0175g0032 a0001c0001t0175g0032	1	319	0.0031	40	c.-43 others(57): Show c.-43-3490_-43-3489insTATATATATATATATATATATATATATA TATATAAAAATA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	2/7			chr3	TogoVar
BDP1_chr5_71450651_71572820	71552126	G G	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGATGGGGCGGTTGCCAGGCAGAGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(133): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0004 a0006 others(10): Show a0001 a0004 a0006 a0007 a0008 a0009 a0023 a0031 a0032 a0033 a0034 a0039 a0040	a0001c0001 a0001c0021 a0001c0022 others(17): Show a0001c0001 a0001c0021 a0001c0022 a0001c0026 a0001c0030 a0004c0004 a0006c0007 a0006c0024 a0006c0028 a0007c0006 a0008c0009 a0008c0048 a0009c0008 a0023c0046 a0031c0029 a0032c0025 a0033c0027 a0034c0023 a0039c0031 a0040c0045	a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 others(23): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0021t0002 a0001c0022t0002 a0001c0026t0002 a0001c0030t0002 a0004c0004t0004 a0004c0004t0010 a0006c0007t0002 a0006c0024t0002 a0006c0028t0021 a0007c0006t0002 a0008c0009t0002 a0008c0048t0002 a0009c0008t0002 a0009c0008t0007 a0023c0046t0002 a0031c0029t0004 a0032c0025t0002 a0033c0027t0002 a0034c0023t0002 a0039c0031t0016 a0040c0045t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 others(131): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0011g0061 a0001c0001t0019g0016 a0001c0001t0020g0052 a0001c0001t0022g0013 a0001c0021t0002g0054 a0001c0022t0002g0081 a0001c0026t0002g0012 a0001c0030t0002g0031 a0004c0004t0004g0311 a0004c0004t0004g0312 a0004c0004t0004g0313 a0004c0004t0004g0314 a0004c0004t0004g0315 a0004c0004t0004g0316 a0004c0004t0004g0318 a0004c0004t0004g0319 a0004c0004t0004g0320 a0004c0004t0010g0321 a0004c0004t0010g0322 a0006c0007t0002g0006 a0006c0007t0002g0103 a0006c0007t0002g0105 a0006c0007t0002g0106 a0006c0007t0002g0107 a0006c0007t0002g0108 a0006c0007t0002g0109 a0006c0024t0002g0104 a0006c0028t0021g0008 a0007c0006t0002g0017 a0007c0006t0002g0042 a0007c0006t0002g0043 a0007c0006t0002g0044 a0007c0006t0002g0045 a0007c0006t0002g0046 a0007c0006t0002g0047 a0007c0006t0002g0079 a0008c0009t0002g0028 a0008c0009t0002g0053 a0008c0009t0002g0110 a0008c0009t0002g0111 a0008c0009t0002g0112 a0008c0009t0002g0113 a0008c0048t0002g0009 a0009c0008t0002g0007 a0009c0008t0002g0090 a0009c0008t0007g0095 a0009c0008t0007g0096 a0009c0008t0007g0097 a0009c0008t0007g0098 a0023c0046t0002g0027 a0031c0029t0004g0317 a0032c0025t0002g0066 a0033c0027t0002g0011 a0034c0023t0002g0069 a0039c0031t0016g0010 a0040c0045t0002g0091	136	325	0.4185	40	c.699 others(57): Show c.6996-968_6996-967insGGTTGCCAGGCAGAGGGTCTCCTCACTT CTCAGATGGGGC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	34/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEAN1_chr16_66422295_66487833	66474610	G G	GAGGGAGA others(33): Show GAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	298	0.0034	40	c.290 others(57): Show c.290-2944_290-2943insAGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGAAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474614	G G	GAGAGAGG others(33): Show GAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02083.hp2 NA18612.hp2 others(3): Show HG00408.hp2 HG02083.hp2 NA18612.hp2 NA18747.hp1 NA18994.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0173 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0001g0173 a0001c0001t0001g0192 a0001c0001t0001g0212 a0001c0001t0001g0272	6	298	0.0201	40	c.290 others(57): Show c.290-2944_290-2943insAGAGGGAGGGAGGGAGGGAGGGAGAGAG GGAGGGAGGAAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66474614	G G	GAGAGAGG others(33): Show GAGAGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	298	0.0034	40	c.290 others(57): Show c.290-2944_290-2943insAGAGGGAGGGAGGGAGGGAGGGAGGAAG GAAGGGAGGAAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BEAN1_chr16_66422295_66487833	66482666	G G	GGGAAAAA others(33): Show GGGAAAAAAAGGGATAAAAATTCCTACCTACTCATCAGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0277 a0001c0001t0011g0277	1	298	0.0034	40	c.17 others(51): Show c.1742_*1781dupGGAAAAAAAGGGATAAAAATTCCTACCTACTCAT CAGTGT	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	5/5	1782	INFO_REALIGN_3_PRIME	chr16	TogoVar

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