Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BIRC6_chr2_32352023_32623878	32460245	GATATAT GATATAT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG03239.hp1 others(3): Show HG00280.hp1 HG00423.hp2 HG03239.hp1 NA18954.hp1 NA19003.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0002c0024 a0001c0006 a0002c0004 a0002c0024	a0001c0006t0001 a0002c0004t0001 a0002c0024t0001 a0001c0006t0001 a0002c0004t0001 a0002c0024t0001	a0001c0006t0001g0002 a0001c0006t0001g0004 a0002c0004t0001g0072 others(3): Show a0001c0006t0001g0002 a0001c0006t0001g0004 a0002c0004t0001g0072 a0002c0004t0001g0073 a0002c0004t0001g0180 a0002c0024t0001g0049	6	247	0.0243	-6	c.475 others(25): Show c.4754-2926_4754-2921delATATAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32473706	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp2 HG02615.hp1 others(2): Show HG01496.hp1 HG02280.hp2 HG02615.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0011 others(1): Show a0001c0001 a0001c0010 a0001c0011 a0001c0021	a0001c0001t0001 a0001c0010t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0010t0001 a0001c0011t0001 a0001c0021t0001	a0001c0001t0001g0190 a0001c0010t0001g0052 a0001c0011t0001g0215 others(2): Show a0001c0001t0001g0190 a0001c0010t0001g0052 a0001c0011t0001g0215 a0001c0011t0001g0216 a0001c0021t0001g0177	5	94	0.0532	-6	c.672 others(23): Show c.6720+506_6720+511delGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	33/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	CTTTTTT CTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01496.hp1 others(22): Show HG01069.hp1 HG01071.hp2 HG01496.hp1 HG02135.hp2 HG02451.hp2 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG06807.hp2 NA18522.hp2 NA18963.hp1 NA18964.hp1 NA18994.hp1 NA19066.hp2 NA19074.hp2 NA19091.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(8): Show a0001c0001 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0023 a0001c0030 a0002c0002 a0002c0004 a0002c0024	a0001c0001t0001 a0001c0005t0001 a0001c0007t0002 others(9): Show a0001c0001t0001 a0001c0005t0001 a0001c0007t0002 a0001c0007t0003 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0023t0001 a0001c0030t0002 a0002c0002t0001 a0002c0004t0001 a0002c0024t0001	a0001c0001t0001g0057 a0001c0001t0001g0210 a0001c0001t0001g0212 others(22): Show a0001c0001t0001g0057 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0005t0001g0237 a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0021 a0001c0007t0002g0022 a0001c0007t0002g0023 a0001c0007t0003g0185 a0001c0009t0001g0027 a0001c0009t0001g0029 a0001c0009t0001g0030 a0001c0010t0001g0053 a0001c0011t0001g0215 a0001c0023t0001g0241 a0001c0030t0002g0018 a0002c0002t0001g0161 a0002c0004t0001g0025 a0002c0004t0001g0067 a0002c0004t0001g0093 a0002c0004t0001g0204 a0002c0024t0001g0050	25	28	0.8929	-6	c.740 others(23): Show c.7409-667_7409-662delTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32504034	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 NA18522.hp2 HG02559.hp2 HG02922.hp1 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0001c0030 a0004c0019 a0001c0007 a0001c0030 a0004c0019	a0001c0007t0002 a0001c0030t0002 a0004c0019t0001 a0001c0007t0002 a0001c0030t0002 a0004c0019t0001	a0001c0007t0002g0017 a0001c0030t0002g0018 a0004c0019t0001g0145 a0001c0007t0002g0017 a0001c0030t0002g0018 a0004c0019t0001g0145	3	117	0.0256	-6	c.949 others(23): Show c.9499+836_9499+841delGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	49/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32541989	TTCAGGA TTCAGGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG03516.hp1 others(1): Show HG01109.hp1 HG02145.hp2 HG03516.hp1 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0013 a0007c0045 a0001c0013 a0007c0045	a0001c0013t0001 a0007c0045t0004 a0001c0013t0001 a0007c0045t0004	a0001c0013t0001g0152 a0001c0013t0001g0153 a0001c0013t0001g0155 others(1): Show a0001c0013t0001g0152 a0001c0013t0001g0153 a0001c0013t0001g0155 a0007c0045t0004g0154	4	272	0.0147	-6	c.122 others(27): Show c.12292-1248_12292-1243delGGATCA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG02895.hp2 others(9): Show HG00639.hp1 HG01167.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03041.hp1 HG03453.hp2 NA18906.hp2 NA18955.hp1 NA19010.hp2 NA19074.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0005 a0001c0012 others(3): Show a0001c0001 a0001c0005 a0001c0012 a0002c0002 a0002c0022 a0011c0032	a0001c0001t0001 a0001c0005t0001 a0001c0012t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0012t0001 a0002c0002t0001 a0002c0022t0001 a0011c0032t0007	a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0212 others(9): Show a0001c0001t0001g0194 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0243 a0001c0001t0001g0269 a0001c0005t0001g0238 a0001c0012t0001g0116 a0001c0012t0001g0117 a0001c0012t0001g0273 a0002c0002t0001g0151 a0002c0022t0001g0056 a0011c0032t0007g0150	12	25	0.4800	-6	c.131 others(27): Show c.13144+3748_13144+3753delAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32616560	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18943.hp2 NA18947.hp2 others(3): Show HG01109.hp2 NA18943.hp2 NA18947.hp2 NA18994.hp1 NA19077.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0075 others(3): Show a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0075 a0002c0002t0001g0100 a0002c0002t0001g0203 a0002c0004t0001g0025	6	100	0.0600	-6	c.143 others(27): Show c.14395-1145_14395-1140delAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	73/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102814622	ATCTGAC ATCTGAC	A A	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18939.hp2 NA18989.hp2 others(2): Show NA18747.hp2 NA18939.hp2 NA18989.hp2 NA18990.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0051 a0001c0001t0007g0290 a0001c0001t0007g0295 others(1): Show a0001c0001t0004g0051 a0001c0001t0007g0290 a0001c0001t0007g0295 a0001c0001t0007g0300	5	402	0.0124	-6	c.479 others(23): Show c.479-1801_479-1796delACTCTG	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BIVM_chr13_102794119_102846533	102820351	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00438.hp2 others(140): Show HG00140.hp2 HG00408.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0002c0006t0002	a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0078 others(105): Show a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0218 a0001c0001t0002g0267 a0001c0001t0002g0307 a0001c0001t0003g0054 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0311 a0001c0001t0005g0129 a0001c0001t0006g0084 a0001c0001t0007g0290 a0001c0001t0007g0295 a0001c0001t0007g0300 a0001c0001t0014g0068 a0001c0001t0014g0085 a0001c0001t0014g0125 a0001c0001t0015g0059 a0001c0001t0015g0275 a0001c0001t0017g0288 a0001c0001t0018g0069 a0001c0001t0018g0079 a0001c0001t0022g0310 a0001c0001t0026g0007 a0001c0001t0030g0070 a0001c0001t0033g0072 a0001c0001t0034g0006 a0001c0001t0035g0103 a0001c0001t0036g0278 a0002c0006t0002g0026	143	358	0.3994	-6	c.606 others(21): Show c.606-667_606-662delAAAAAA	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
BLK_chr8_11489387_11569599	11492272	CGTGTGT CGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(56): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00741.hp2 HG01071.hp2 HG01168.hp2 HG01496.hp1 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 NA18522.hp2 NA18612.hp1 NA18946.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19030.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19088.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0007 a0001c0005t0004 a0001c0011t0004 a0003c0008t0008 a0004c0009t0004	a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0137 others(53): Show a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0003g0078 a0001c0001t0005g0010 a0001c0001t0005g0079 a0001c0001t0005g0291 a0001c0001t0009g0236 a0001c0001t0011g0061 a0001c0002t0001g0129 a0001c0002t0001g0166 a0001c0002t0002g0070 a0001c0003t0007g0003 a0001c0003t0007g0012 a0001c0003t0007g0019 a0001c0003t0007g0021 a0001c0003t0007g0022 a0001c0003t0007g0045 a0001c0003t0007g0057 a0001c0005t0004g0090 a0001c0011t0004g0089 a0003c0008t0008g0293 a0004c0009t0004g0084	59	91	0.6484	-6	c.-23 others(17): Show c.-2320_-2315delGTGTGT	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding		2114		chr8	TogoVar
BLK_chr8_11489387_11569599	11533599	GAGGAGA GAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(57): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00673.hp1 HG01099.hp1 HG01109.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01981.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp1 NA18612.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18972.hp2 NA18978.hp1 NA18982.hp2 NA18990.hp2 NA18993.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0001c0003t0007 a0001c0004t0007	a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0130 others(53): Show a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0003g0078 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0011g0004 a0001c0001t0011g0061 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0129 a0001c0002t0002g0070 a0001c0003t0004g0267 a0001c0003t0007g0003 a0001c0003t0007g0012 a0001c0003t0007g0037 a0001c0003t0007g0045 a0001c0003t0007g0057 a0001c0003t0007g0060 a0001c0004t0007g0052	60	306	0.1961	-6	c.-1- others(21): Show c.-1-9619_-1-9614delAAGGAG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11535318	AAGAAAG AAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01515.hp1 HG01517.hp1 others(11): Show HG00438.hp1 HG01515.hp1 HG01517.hp1 HG02132.hp1 HG02451.hp2 HG02523.hp2 HG02896.hp1 HG02896.hp2 HG04115.hp1 NA18956.hp2 NA18990.hp2 NA19002.hp1 NA19003.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0199 others(11): Show a0001c0001t0001g0120 a0001c0001t0001g0132 a0001c0001t0001g0199 a0001c0001t0001g0235 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0005g0212 a0001c0001t0005g0214 a0001c0001t0011g0061 a0001c0002t0001g0129	14	306	0.0458	-6	c.-1- others(21): Show c.-1-7901_-1-7896delAGAGAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11559506	AACTCAC AACTCAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02976.hp2 others(6): Show HG01891.hp2 HG02486.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0005 a0005c0013 a0001c0004 a0001c0005 a0005c0013	a0001c0004t0009 a0001c0005t0009 a0001c0005t0010 others(1): Show a0001c0004t0009 a0001c0005t0009 a0001c0005t0010 a0005c0013t0010	a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 others(5): Show a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 a0001c0005t0009g0243 a0001c0005t0009g0244 a0001c0005t0010g0005 a0001c0005t0010g0117 a0005c0013t0010g0118	9	306	0.0294	-6	c.102 others(25): Show c.1029+1471_1029+1476delTCACAC	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11559514	CACACAA CACACAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02451.hp1 others(14): Show HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0006t0005 a0001c0011t0001	a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0235 others(14): Show a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0005g0074 a0001c0001t0005g0217 a0001c0001t0009g0081 a0001c0001t0009g0236 a0001c0001t0010g0218 a0001c0001t0010g0222 a0001c0001t0010g0223 a0001c0001t0010g0245 a0001c0006t0005g0082 a0001c0006t0005g0096 a0001c0006t0005g0097 a0001c0006t0005g0099 a0001c0006t0005g0100 a0001c0011t0001g0224	17	306	0.0556	-6	c.102 others(25): Show c.1029+1482_1029+1487delAACACA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLK_chr8_11489387_11569599	11569102	CACATAA CACATAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02056.hp1 HG02615.hp1 others(25): Show HG01891.hp1 HG02056.hp1 HG02615.hp1 HG02615.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03471.hp1 HG03471.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18977.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19080.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0007	a0001c0001t0004 a0001c0002t0004 a0001c0002t0006 others(10): Show a0001c0001t0004 a0001c0002t0004 a0001c0002t0006 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0005t0004 a0001c0006t0004 a0001c0011t0004 a0002c0007t0004	a0001c0001t0004g0087 a0001c0002t0004g0080 a0001c0002t0004g0101 others(25): Show a0001c0001t0004g0087 a0001c0002t0004g0080 a0001c0002t0004g0101 a0001c0002t0004g0104 a0001c0002t0006g0219 a0001c0002t0006g0221 a0001c0002t0006g0292 a0001c0003t0004g0088 a0001c0003t0004g0247 a0001c0003t0004g0248 a0001c0003t0004g0267 a0001c0003t0004g0275 a0001c0003t0004g0288 a0001c0003t0006g0125 a0001c0003t0006g0202 a0001c0003t0006g0227 a0001c0003t0006g0228 a0001c0003t0006g0232 a0001c0003t0007g0021 a0001c0003t0007g0022 a0001c0004t0004g0237 a0001c0004t0004g0278 a0001c0004t0006g0197 a0001c0004t0007g0052 a0001c0005t0004g0090 a0001c0006t0004g0098 a0001c0011t0004g0089 a0002c0007t0004g0238	28	306	0.0915	-6	c.49 others(17): Show c.4995_*5000delACATAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding		4504		chr8	TogoVar
BLMH_chr17_30243203_30296944	30252533	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02723.hp2 others(6): Show HG02451.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0006 a0001c0001t0001g0071 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0002c0002t0001g0147	9	118	0.0763	-6	c.121 others(25): Show c.1217-3371_1217-3366delTTTTTT	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	11/11			chr17	TogoVar
BLMH_chr17_30243203_30296944	30276474	TTAAAGA TTAAAGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp2 HG00741.hp2 others(37): Show HG00597.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01081.hp2 HG01243.hp1 HG01257.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02148.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp2 NA18954.hp2 NA18955.hp2 NA18971.hp1 NA19030.hp2 NA19068.hp1 NA19072.hp1 NA19240.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0006c0007t0001 a0001c0001t0001 a0001c0001t0004 a0006c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(28): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0059 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0004g0040 a0006c0007t0001g0195	40	296	0.1351	-6	c.646 others(23): Show c.646-2283_646-2278delTCTTTA	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	6/11			chr17	TogoVar
BLM_chr15_90712346_90821166	90727156	GTGTTTT GTGTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG03130.hp1 others(5): Show HG02055.hp2 HG02486.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03516.hp2 NA20129.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0008 others(1): Show a0001c0001 a0001c0002 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0004c0008t0002 a0005c0007t0002	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0004 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0004 a0001c0001t0002g0248 a0001c0002t0001g0025 a0001c0002t0001g0027 a0004c0008t0002g0254 a0005c0007t0002g0039	8	277	0.0289	-6	c.-5+ others(21): Show c.-5+9730_-5+9735delGTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90734696	CAGAGAG CAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00597.hp1 others(108): Show HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01346.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0009 others(13): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0019 a0001c0021 a0001c0023 a0001c0025 a0002c0004 a0002c0005 a0003c0003 a0004c0006 a0004c0008 a0005c0007 a0009c0020 a0011c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0007 a0001c0009t0002 a0001c0011t0002 a0001c0019t0001 a0001c0021t0002 a0001c0023t0001 a0001c0025t0001 a0002c0004t0001 a0002c0005t0001 a0003c0003t0002 a0003c0003t0003 a0004c0006t0002 a0004c0008t0002 a0005c0007t0002 a0009c0020t0001 a0011c0027t0002	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0046 others(107): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0002g0026 a0001c0001t0002g0062 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0147 a0001c0001t0002g0171 a0001c0001t0004g0018 a0001c0001t0009g0144 a0001c0002t0001g0001 a0001c0002t0001g0050 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0138 a0001c0002t0001g0146 a0001c0002t0001g0174 a0001c0002t0001g0253 a0001c0002t0001g0261 a0001c0002t0007g0096 a0001c0009t0002g0077 a0001c0011t0002g0045 a0001c0019t0001g0110 a0001c0021t0002g0028 a0001c0023t0001g0086 a0001c0025t0001g0040 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0136 a0002c0004t0001g0140 a0002c0005t0001g0059 a0002c0005t0001g0135 a0002c0005t0001g0139 a0002c0005t0001g0272 a0003c0003t0002g0124 a0003c0003t0002g0257 a0003c0003t0003g0123 a0004c0006t0002g0114 a0004c0006t0002g0168 a0004c0008t0002g0074 a0004c0008t0002g0075 a0004c0008t0002g0076 a0005c0007t0002g0259 a0009c0020t0001g0061 a0011c0027t0002g0016	111	166	0.6687	-6	c.-4- others(23): Show c.-4-12661_-4-12656delGAGAGA	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90735236	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01891.hp2 HG02965.hp2 others(10): Show HG01515.hp1 HG01891.hp2 HG02965.hp2 HG02976.hp2 HG03195.hp2 HG03239.hp1 HG03492.hp1 HG03516.hp1 HG03834.hp2 NA18957.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0009 others(3): Show a0001c0001 a0001c0002 a0001c0009 a0001c0023 a0001c0025 a0012c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0009t0001 a0001c0023t0001 a0001c0025t0001 a0012c0015t0002	a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0116 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0002g0079 a0001c0001t0002g0133 a0001c0001t0009g0144 a0001c0002t0001g0097 a0001c0009t0001g0276 a0001c0023t0001g0086 a0001c0025t0001g0040 a0012c0015t0002g0022	13	50	0.2600	-6	c.-4- others(23): Show c.-4-12122_-4-12117delATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLOC1S2_chr10_100268293_100291680	100276388	GTCTCCC GTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG03453.hp1 others(1): Show HG02486.hp1 HG02572.hp1 HG03453.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0014 a0001c0001t0002 a0002c0002t0014	a0001c0001t0002g0002 a0001c0001t0002g0019 a0002c0002t0014g0043 a0001c0001t0002g0002 a0001c0001t0002g0019 a0002c0002t0014g0043	4	327	0.0122	-6	c.398 others(21): Show c.398-901_398-896delGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S2_chr10_100268293_100291680	100276407	GTCTCCC GTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG03516.hp1 others(2): Show HG02055.hp2 HG02451.hp1 HG03516.hp1 NA19009.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0004t0008 a0001c0001t0001 a0001c0001t0004 a0001c0004t0008	a0001c0001t0001g0030 a0001c0001t0004g0041 a0001c0001t0004g0175 others(1): Show a0001c0001t0001g0030 a0001c0001t0004g0041 a0001c0001t0004g0175 a0001c0004t0008g0048	5	372	0.0134	-6	c.398 others(21): Show c.398-920_398-915delGGGAGA	BLOC1S2	ENSG00000196072.12	transcript	ENST00000370372.7	protein_coding	4/4			chr10	TogoVar
BLOC1S3_chr19_45173784_45186800	45177191	GCACACA GCACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01109.hp1 others(43): Show HG00423.hp1 HG00673.hp2 HG01109.hp1 HG01192.hp2 HG01346.hp1 HG01516.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02148.hp1 HG02273.hp2 HG02486.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03704.hp2 HG04184.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18949.hp2 NA18955.hp1 NA18964.hp1 NA18965.hp1 NA18975.hp1 NA18980.hp1 NA18993.hp1 NA19054.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19085.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0002t0001g0001	46	208	0.2212	-6	c.-16 others(17): Show c.-1649_-1644delCACACA	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		1592		chr19	TogoVar
BLOC1S4_chr4_6711174_6722664	6721973	GCACACA GCACACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02970.hp1 HG03209.hp2 others(1): Show HG02109.hp2 HG02970.hp1 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	4	46	0.0870	-6	c.51 others(17): Show c.5111_*5116delCACACA	BLOC1S4	ENSG00000186222.5	transcript	ENST00000320776.5	protein_coding		4310		chr4	TogoVar
BLOC1S5_chr6_8008567_8069389	8038391	GGAATAT GGAATAT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01952.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG01952.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0015 a0001c0001t0001g0164 a0001c0001t0001g0173	4	362	0.0110	-6	c.325 others(23): Show c.325+2742_325+2747delATATTC	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	3/4			chr6	TogoVar
BLOC1S5_chr6_8008567_8069389	8047160	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02145.hp2 others(10): Show HG00733.hp2 HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 others(10): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0128 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0260 a0001c0001t0002g0266 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0013g0282	13	40	0.3250	-6	c.196 others(23): Show c.196-5898_196-5893delTGTGTG	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLOC1S6_chr15_45582379_45614708	45593386	GAAAAAA GAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01169.hp2 others(38): Show HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG01884.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0003t0003 a0002c0002t0003	a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0030 others(19): Show a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0093 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0113 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0102 a0001c0001t0020g0010 a0001c0001t0021g0031 a0001c0001t0022g0104 a0001c0001t0023g0096 a0001c0003t0003g0098 a0002c0002t0003g0030	41	329	0.1246	-6	c.224 others(23): Show c.224+1127_224+1132delAAAAAA	BLOC1S6	ENSG00000104164.12	transcript	ENST00000220531.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLTP1_chr4_122147331_122367752	122180039	CACACAT CACACAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp1 NA19002.hp1 HG02622.hp1 HG03579.hp1 NA19002.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0007 a0003c0006 a0001c0002 a0001c0007 a0003c0006	a0001c0002t0001 a0001c0007t0001 a0003c0006t0001 a0001c0002t0001 a0001c0007t0001 a0003c0006t0001	a0001c0002t0001g0055 a0001c0007t0001g0238 a0003c0006t0001g0042 a0001c0002t0001g0055 a0001c0007t0001g0238 a0003c0006t0001g0042	3	326	0.0092	-6	c.358 others(23): Show c.358+4131_358+4136delTACACA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	6/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122201191	GTTTTAC GTTTTAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp2 HG02055.hp2 others(14): Show HG01361.hp2 HG01884.hp2 HG02055.hp2 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03579.hp1 NA19030.hp2 NA19240.hp2	a0003 a0008 a0003 a0008	a0003c0006 a0008c0011 a0003c0006 a0008c0011	a0003c0006t0001 a0008c0011t0001 a0008c0011t0007 a0003c0006t0001 a0008c0011t0001 a0008c0011t0007	a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 others(14): Show a0003c0006t0001g0009 a0003c0006t0001g0010 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0013 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0006t0001g0042 a0003c0006t0001g0043 a0003c0006t0001g0044 a0003c0006t0001g0046 a0003c0006t0001g0047 a0003c0006t0001g0048 a0008c0011t0001g0045 a0008c0011t0001g0112 a0008c0011t0007g0039	17	334	0.0509	-6	c.149 others(21): Show c.1498+71_1498+76delCTTTTA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	15/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122228700	TTGTGTG TTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02717.hp2 others(3): Show HG02055.hp1 HG02559.hp2 HG02717.hp2 HG02818.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 others(2): Show a0001c0005t0002g0001 a0001c0005t0002g0004 a0001c0005t0002g0005 a0001c0005t0002g0006 a0001c0005t0002g0007	6	300	0.0200	-6	c.292 others(23): Show c.2923-408_2923-403delTGTGTG	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	24/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122236876	AACCCCT AACCCCT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp2 HG02145.hp1 others(10): Show HG01192.hp1 HG01891.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02717.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0156 a0001c0001t0001g0322 a0001c0001t0001g0323 others(10): Show a0001c0001t0001g0156 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0009g0328	13	334	0.0389	-6	c.357 others(25): Show c.3575-1213_3575-1208delCCCTAC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	27/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122290812	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02622.hp1 HG02717.hp1 others(6): Show HG00639.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0007t0001g0238 others(6): Show a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0007t0001g0238 a0001c0007t0001g0239 a0001c0007t0001g0240 a0001c0007t0001g0241 a0001c0007t0001g0242 a0001c0007t0001g0243 a0001c0007t0001g0247	9	129	0.0698	-6	c.938 others(25): Show c.9388+1652_9388+1657delCACACA	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	54/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP1_chr4_122147331_122367752	122327242	CCCCATG CCCCATG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG00733.hp1 others(34): Show HG00280.hp1 HG00609.hp2 HG00733.hp1 HG00735.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01891.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03669.hp1 HG03688.hp2 HG03927.hp2 NA18954.hp2 NA18964.hp1 NA18982.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20905.hp1	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0001c0017 a0001c0036 others(2): Show a0001c0001 a0001c0017 a0001c0036 a0007c0012 a0012c0039	a0001c0001t0001 a0001c0001t0009 a0001c0017t0001 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0017t0001 a0001c0036t0001 a0007c0012t0001 a0012c0039t0001	a0001c0001t0001g0156 a0001c0001t0001g0296 a0001c0001t0001g0298 others(34): Show a0001c0001t0001g0156 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0009g0328 a0001c0017t0001g0295 a0001c0017t0001g0301 a0001c0036t0001g0320 a0007c0012t0001g0313 a0007c0012t0001g0315 a0007c0012t0001g0316 a0012c0039t0001g0233	37	334	0.1108	-6	c.112 others(25): Show c.11260-860_11260-855delCCATGC	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	67/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100048771	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02572.hp1 others(7): Show HG02145.hp2 HG02280.hp2 HG02572.hp1 HG02818.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0002 a0021 a0002 a0021	a0002c0003 a0021c0026 a0002c0003 a0021c0026	a0002c0003t0001 a0021c0026t0001 a0002c0003t0001 a0021c0026t0001	a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 others(7): Show a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0020 a0021c0026t0001g0013	10	76	0.1316	-6	c.371 others(23): Show c.3719-581_3719-576delACACAC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	17/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100084378	TCACACA TCACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00738.hp1 others(13): Show HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01255.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03710.hp2 HG03831.hp2 HG04184.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0020	a0001c0001 a0001c0009 a0005c0006 others(2): Show a0001c0001 a0001c0009 a0005c0006 a0006c0007 a0020c0019	a0001c0001t0001 a0001c0009t0001 a0005c0006t0001 others(2): Show a0001c0001t0001 a0001c0009t0001 a0005c0006t0001 a0006c0007t0001 a0020c0019t0001	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 others(13): Show a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0009t0001g0153 a0001c0009t0001g0154 a0001c0009t0001g0155 a0005c0006t0001g0178 a0005c0006t0001g0180 a0005c0006t0001g0182 a0006c0007t0001g0161 a0020c0019t0001g0103	16	23	0.6957	-6	c.128 others(21): Show c.1288+92_1288+97delTGTGTG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	10/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100104884	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp2 HG01167.hp2 others(8): Show HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp2 HG01928.hp2 HG02258.hp1 HG02735.hp2 HG02965.hp1 HG03453.hp1 HG03540.hp1 HG04184.hp1	a0001 a0004 a0013 others(1): Show a0001 a0004 a0013 a0019	a0001c0004 a0004c0005 a0013c0024 others(1): Show a0001c0004 a0004c0005 a0013c0024 a0019c0016	a0001c0004t0001 a0004c0005t0001 a0013c0024t0001 others(1): Show a0001c0004t0001 a0004c0005t0001 a0013c0024t0001 a0019c0016t0001	a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 others(8): Show a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0041 a0004c0005t0001g0031 a0004c0005t0001g0032 a0004c0005t0001g0033 a0004c0005t0001g0034 a0004c0005t0001g0035 a0013c0024t0001g0187 a0019c0016t0001g0055	11	41	0.2683	-6	c.208 others(21): Show c.208-939_208-934delTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	2/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100107332	TATAATA TATAATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02818.hp2 others(2): Show HG01167.hp2 HG01243.hp1 HG02818.hp2 HG03098.hp2 HG03516.hp2	a0007 a0013 a0007 a0013	a0007c0008 a0013c0024 a0007c0008 a0013c0024	a0007c0008t0001 a0013c0024t0001 a0007c0008t0001 a0013c0024t0001	a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 others(2): Show a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 a0007c0008t0001g0186 a0013c0024t0001g0187	5	108	0.0463	-6	c.207 others(23): Show c.207+1048_207+1053delTATTAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	2/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100109159	CCTCTCT CCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG01928.hp1 others(12): Show HG01109.hp2 HG01256.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp2 HG02486.hp1 HG02717.hp1 HG02897.hp1 HG03195.hp1 HG03540.hp1 NA18960.hp2 NA18983.hp2 NA19043.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0018	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0006c0007 a0009c0011 a0018c0014	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0006c0007t0001 a0009c0011t0001 a0018c0014t0001	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 others(12): Show a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0169 a0001c0004t0001g0029 a0001c0004t0001g0041 a0002c0003t0001g0039 a0006c0007t0001g0163 a0009c0011t0001g0004 a0009c0011t0001g0005 a0018c0014t0001g0107	15	39	0.3846	-6	c.45- others(19): Show c.45-617_45-612delAGAGAG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130976	AGGGAGG AGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG02717.hp2 others(7): Show HG01081.hp2 HG02451.hp2 HG02717.hp2 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0015	a0001c0001 a0002c0003 a0011c0021 others(1): Show a0001c0001 a0002c0003 a0011c0021 a0015c0023	a0001c0001t0001 a0002c0003t0001 a0011c0021t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0011c0021t0001 a0015c0023t0002	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 others(7): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0108 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0011c0021t0001g0054 a0015c0023t0002g0177	10	180	0.0556	-6	c.44+ others(23): Show c.44+11610_44+11615delCCTCCC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130982	GGAGAGA GGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp1 HG03041.hp2 others(4): Show HG02015.hp1 HG02523.hp1 HG03041.hp2 HG03490.hp1 HG03831.hp2 NA18983.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0156	7	72	0.0972	-6	c.44+ others(23): Show c.44+11604_44+11609delTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100138866	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02280.hp2 others(17): Show HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02818.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0002 a0016 a0021 a0002 a0016 a0021	a0002c0003 a0002c0010 a0016c0022 others(1): Show a0002c0003 a0002c0010 a0016c0022 a0021c0026	a0002c0003t0001 a0002c0010t0001 a0016c0022t0001 others(1): Show a0002c0003t0001 a0002c0010t0001 a0016c0022t0001 a0021c0026t0001	a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 others(17): Show a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0010t0001g0021 a0002c0010t0001g0022 a0016c0022t0001g0017 a0021c0026t0001g0013	20	146	0.1370	-6	c.44+ others(21): Show c.44+3720_44+3725delGTGTGT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRA_chr7_43753680_43812342	43759988	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG00741.hp1 others(17): Show HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01978.hp2 HG02071.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG03490.hp1 HG03654.hp2 HG04184.hp2 NA18939.hp2 NA18953.hp2 NA19007.hp2 NA19009.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0042 others(15): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064	20	86	0.2326	-6	c.-22 others(23): Show c.-22+1270_-22+1275delTTTTTT	BLVRA	ENSG00000106605.11	transcript	ENST00000265523.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
BLVRB_chr19_40442768_40470745	40459327	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02280.hp1 others(11): Show HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02615.hp1 HG02723.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0001g0101 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142	14	93	0.1505	-6	c.80- others(19): Show c.80-788_80-783delTTTTTT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01099.hp1 others(51): Show HG00280.hp2 HG00741.hp2 HG01099.hp1 HG01123.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01891.hp2 HG01981.hp2 HG02027.hp2 HG02145.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18965.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 others(51): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0101 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0094 a0001c0001t0002g0102 a0001c0001t0002g0103	54	124	0.4355	-6	c.80- others(21): Show c.80-1708_80-1703delATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLZF1_chr1_169363195_169393305	169375393	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp2 others(59): Show HG00597.hp1 HG00609.hp2 HG00621.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02083.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02615.hp1 HG02683.hp1 HG02738.hp1 HG02818.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18950.hp2 NA18960.hp1 NA18965.hp1 NA18977.hp1 NA18980.hp2 NA18985.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19059.hp2 NA19070.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009	a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0056 others(20): Show a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0146 a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0058 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0008g0001 a0002c0002t0009g0001	62	105	0.5905	-6	c.29- others(21): Show c.29-1114_29-1109delATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13284077	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02602.hp2 others(3): Show HG01891.hp2 HG02451.hp1 HG02602.hp2 HG02723.hp2 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0134 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0147	6	122	0.0492	-6	c.-26 others(25): Show c.-263+6183_-263+6188delGTGTGT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284162	GTGTATA GTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG02451.hp2 others(2): Show HG00639.hp1 HG02280.hp2 HG02451.hp2 HG03098.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0294 a0001c0001t0001g0295 others(2): Show a0001c0001t0001g0182 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297	5	310	0.0161	-6	c.-26 others(25): Show c.-263+6241_-263+6246delGTATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13290559	ATATTAT ATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG02451.hp2 others(8): Show HG00639.hp1 HG00733.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG03098.hp2 HG03453.hp1 HG06807.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0001g0182 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0037 a0001c0001t0001g0182 a0001c0001t0001g0266 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300	11	118	0.0932	-6	c.-26 others(27): Show c.-263+12666_-263+12671delTTATTA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13363127	CATATAT CATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG00735.hp2 others(21): Show HG00438.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp1 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02258.hp2 HG02818.hp2 HG03209.hp1 HG03710.hp1 HG04228.hp2 NA18940.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18981.hp2 NA18983.hp1 NA19064.hp1 NA19086.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 others(21): Show a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0003t0001g0308	24	56	0.4286	-6	c.460 others(23): Show c.460-2338_460-2333delATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13365282	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02572.hp1 others(2): Show HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0294 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0294 a0001c0001t0001g0306 a0001c0001t0004g0024	5	63	0.0794	-6	c.460 others(21): Show c.460-184_460-179delCACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

Search by Variant

Search

Search Results