Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BEST1_chr11_61945351_61969461	61958127	A A	ATCCTCCT others(2): Show ATCCTCCTCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0002c0016 a0002c0025 a0003c0015 a0004c0022 a0005c0017 a0006c0019 a0007c0021 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0020t0001 a0002c0016t0001 a0002c0025t0001 a0003c0015t0001 a0004c0022t0001 a0005c0017t0001 a0006c0019t0001 a0007c0021t0001 a0008c0018t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0002g0015 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0031 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0168 a0001c0003t0001g0003 a0001c0003t0001g0008 a0001c0003t0001g0016 a0001c0003t0001g0025 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0181 a0001c0003t0001g0196 a0001c0003t0001g0201 a0001c0003t0001g0202 a0001c0004t0001g0012 a0001c0004t0001g0013 a0001c0004t0001g0019 a0001c0004t0001g0020 a0001c0004t0001g0036 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0071 a0001c0004t0001g0079 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0118 a0001c0004t0001g0122 a0001c0004t0001g0124 a0001c0004t0001g0127 a0001c0004t0001g0144 a0001c0004t0001g0146 a0001c0004t0001g0151 a0001c0004t0001g0154 a0001c0004t0001g0155 a0001c0004t0001g0156 a0001c0004t0001g0174 a0001c0004t0001g0180 a0001c0004t0001g0203 a0001c0004t0001g0204 a0001c0004t0003g0013 a0001c0004t0003g0120 a0001c0005t0001g0003 a0001c0005t0001g0025 a0001c0005t0001g0184 a0001c0005t0001g0185 a0001c0005t0001g0187 a0001c0005t0001g0192 a0001c0005t0001g0193 a0001c0005t0001g0198 a0001c0006t0001g0005 a0001c0006t0001g0037 a0001c0006t0001g0049 a0001c0006t0001g0059 a0001c0006t0001g0060 a0001c0006t0001g0108 a0001c0006t0001g0160 a0001c0007t0001g0009 a0001c0007t0001g0024 a0001c0007t0001g0186 a0001c0007t0001g0189 a0001c0007t0001g0190 a0001c0007t0001g0191 a0001c0008t0001g0007 a0001c0008t0001g0066 a0001c0008t0001g0067 a0001c0008t0001g0068 a0001c0009t0001g0035 a0001c0009t0001g0054 a0001c0009t0001g0188 a0001c0009t0001g0194 a0001c0009t0001g0197 a0001c0009t0001g0199 a0001c0009t0001g0200 a0001c0010t0001g0028 a0001c0010t0001g0134 a0001c0011t0001g0047 a0001c0011t0001g0082 a0001c0012t0001g0109 a0001c0012t0001g0119 a0001c0012t0001g0121 a0001c0013t0001g0167 a0001c0013t0001g0170 a0001c0013t0001g0172 a0001c0014t0001g0050 a0001c0014t0001g0169 a0001c0020t0001g0063 a0002c0016t0001g0057 a0002c0025t0001g0195 a0003c0015t0001g0142 a0003c0015t0001g0143 a0004c0022t0001g0173 a0005c0017t0001g0102 a0006c0019t0001g0017 a0007c0021t0001g0070 a0008c0018t0002g0069	396	410	0.9659	9	c.715 others(21): Show c.715-12_715-4dupTCCTCCTCC	BEST1	ENSG00000167995.17	transcript	ENST00000378043.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEX5_chrX_102148712_102160977	102153648	T T	TATATATA others(2): Show TATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	324	0.0031	9	c.28 others(18): Show c.281_*282insTATATATAT	BEX5	ENSG00000184515.11	transcript	ENST00000333643.4	protein_coding		63		chrX	TogoVar
BFAR_chr16_14627951_14674236	14670131	A A	ACATCTAA others(2): Show ACATCTAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp1 HG02717.hp2 others(2): Show HG01243.hp1 HG02622.hp1 HG02717.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036	5	317	0.0158	9	c.23 others(20): Show c.2304_*2305insCATCTAAAG	BFAR	ENSG00000103429.11	transcript	ENST00000261658.7	protein_coding		896		chr16	TogoVar
BFSP2_chr3_133395056_133480208	133466677	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp2 others(41): Show HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp2 HG01516.hp2 HG01884.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp2 NA18956.hp1 NA18986.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(39): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0223 a0001c0001t0001g0237 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0002t0001g0028 a0001c0002t0001g0062 a0001c0002t0001g0107 a0001c0002t0001g0166 a0001c0002t0001g0182 a0001c0002t0001g0191 a0001c0002t0001g0222 a0002c0003t0001g0003 a0002c0003t0001g0154 a0002c0003t0001g0220 a0002c0007t0001g0236	44	276	0.1594	9	c.892 others(24): Show c.892-139_892-131dupAAAAAAAAA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BGLAP_chr1_156237184_156248317	156240585	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00558.hp2 others(98): Show HG00323.hp2 HG00423.hp2 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18939.hp1 NA18942.hp1 NA18952.hp1 NA18959.hp2 NA18969.hp2 NA18973.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp1 NA19007.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19078.hp2 NA19080.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0005c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0005c0007t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0003t0001g0001 a0001c0005t0001g0001 a0005c0007t0001g0001 a0006c0009t0001g0001	101	400	0.2525	9	c.-16 others(20): Show c.-1647_-1646insAAAAAAAAA	BGLAP	ENSG00000242252.2	transcript	ENST00000368272.5	protein_coding		1598		chr1	TogoVar
BICD1_chr12_32101847_32388633	32105400	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02080.hp2 HG02145.hp1 others(6): Show HG01192.hp2 HG02080.hp2 HG02145.hp1 HG02738.hp2 HG02818.hp1 HG03195.hp1 NA18975.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0034 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0034 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0027	a0001c0001t0004g0130 a0001c0001t0004g0287 a0001c0001t0006g0155 others(6): Show a0001c0001t0004g0130 a0001c0001t0004g0287 a0001c0001t0006g0155 a0001c0001t0006g0165 a0001c0001t0034g0128 a0001c0002t0005g0141 a0001c0002t0007g0150 a0001c0002t0008g0145 a0001c0002t0027g0120	9	290	0.0310	9	c.-19 others(20): Show c.-1932_-1931insTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1446		chr12	TogoVar
BICD1_chr12_32101847_32388633	32182278	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00639.hp1 others(21): Show HG00408.hp2 HG00558.hp1 HG00639.hp1 HG01243.hp1 HG01261.hp1 HG02080.hp2 HG02630.hp1 HG03041.hp2 HG03491.hp1 NA18944.hp2 NA18951.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18971.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp2 NA18998.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0029	a0001c0001t0004g0132 a0001c0001t0004g0142 a0001c0001t0007g0251 others(21): Show a0001c0001t0004g0132 a0001c0001t0004g0142 a0001c0001t0007g0251 a0001c0001t0008g0108 a0001c0001t0008g0113 a0001c0001t0008g0123 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0010g0103 a0001c0002t0002g0121 a0001c0002t0002g0131 a0001c0002t0004g0106 a0001c0002t0004g0117 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0116 a0001c0002t0005g0118 a0001c0002t0005g0126 a0001c0002t0005g0127 a0001c0002t0005g0248 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0029g0109	24	290	0.0828	9	c.214 others(28): Show c.214-33955_214-33947dupTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32233322	T T	TTAAAAAA others(2): Show TTAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01169.hp2 others(15): Show HG00280.hp2 HG01167.hp2 HG01169.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG02004.hp1 HG02109.hp2 HG02630.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18960.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0032 a0001c0001t0043 a0001c0001t0055 a0001c0001t0061 a0001c0002t0005 a0001c0005t0012	a0001c0001t0001g0194 a0001c0001t0003g0205 a0001c0001t0003g0234 others(15): Show a0001c0001t0001g0194 a0001c0001t0003g0205 a0001c0001t0003g0234 a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0004g0170 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0032g0033 a0001c0001t0043g0236 a0001c0001t0055g0039 a0001c0001t0061g0226 a0001c0002t0005g0112 a0001c0002t0005g0118 a0001c0005t0012g0271	18	290	0.0621	9	c.426 others(28): Show c.426+16863_426+16864insTAAAAAAAA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9			chr12	TogoVar
BICD1_chr12_32101847_32388633	32243264	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp1 others(14): Show HG00438.hp1 HG00597.hp1 HG00609.hp1 HG01261.hp1 HG01358.hp1 HG02300.hp1 HG02523.hp1 HG02683.hp1 HG03471.hp2 HG03516.hp1 NA18989.hp1 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19082.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0038 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0029	a0001c0001t0001g0038 a0001c0001t0001g0278 a0001c0001t0003g0067 others(14): Show a0001c0001t0001g0038 a0001c0001t0001g0278 a0001c0001t0003g0067 a0001c0001t0003g0203 a0001c0001t0006g0162 a0001c0001t0010g0103 a0001c0001t0038g0098 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0179 a0001c0002t0001g0210 a0001c0002t0001g0224 a0001c0002t0001g0231 a0001c0002t0002g0243 a0001c0002t0002g0263 a0001c0002t0004g0016 a0001c0002t0029g0109	17	290	0.0586	9	c.426 others(28): Show c.426+26818_426+26826dupTTTTTTTTT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32261995	T T	TGACAGGG others(2): Show TGACAGGGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG01169.hp2 others(25): Show HG00642.hp1 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01346.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19083.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(14): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0001t0032 a0001c0001t0055 a0001c0001t0061 a0001c0002t0007 a0001c0003t0013 a0001c0003t0033 a0001c0003t0042 a0001c0003t0052 a0001c0005t0009 a0001c0005t0012 a0001c0007t0050	a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0006g0034 others(25): Show a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0008g0140 a0001c0001t0009g0183 a0001c0001t0010g0133 a0001c0001t0010g0161 a0001c0001t0024g0209 a0001c0001t0032g0033 a0001c0001t0055g0039 a0001c0001t0061g0226 a0001c0002t0007g0028 a0001c0002t0007g0150 a0001c0003t0013g0051 a0001c0003t0013g0189 a0001c0003t0033g0122 a0001c0003t0042g0274 a0001c0003t0052g0286 a0001c0005t0009g0270 a0001c0005t0012g0271 a0001c0007t0050g0186	28	290	0.0966	9	c.427 others(28): Show c.427-31998_427-31990dupGACAGGGGC	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCCT others(2): Show GTCTTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 NA19030.hp2 NA20129.hp2 HG00609.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0030 a0001c0001t0010 a0001c0001t0030	a0001c0001t0010g0003 a0001c0001t0010g0018 a0001c0001t0030g0029 a0001c0001t0010g0003 a0001c0001t0010g0018 a0001c0001t0030g0029	3	290	0.0103	9	c.69 others(20): Show c.6961_*6962insTCTTCCTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD1_chr12_32101847_32388633	32384588	G G	GTCTTCTT others(2): Show GTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02004.hp1 HG02723.hp2 others(4): Show HG01934.hp1 HG02004.hp1 HG02723.hp2 HG03491.hp1 NA18947.hp2 NA18982.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0043 a0001c0004t0014 a0001c0004t0062	a0001c0001t0001g0188 a0001c0001t0008g0137 a0001c0001t0011g0259 others(4): Show a0001c0001t0001g0188 a0001c0001t0008g0137 a0001c0001t0011g0259 a0001c0001t0014g0030 a0001c0001t0043g0236 a0001c0004t0014g0004 a0001c0004t0062g0040	7	290	0.0241	9	c.69 others(20): Show c.6961_*6962insTCTTCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		956		chr12	TogoVar
BICD2_chr9_92706363_92769833	92764801	A A	AGCCGCCG others(2): Show AGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG01106.hp2 others(7): Show HG00438.hp2 HG00558.hp1 HG01106.hp2 HG02040.hp1 HG02976.hp1 NA18950.hp1 NA18955.hp2 NA19060.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0026 a0001c0008t0008	a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 others(7): Show a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0011g0212 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0221 a0001c0001t0026g0215 a0001c0008t0008g0220	10	360	0.0278	9	c.-66 others(16): Show c.-66_-58dupGGCGGCGGC	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/7	58		chr9	TogoVar
BICDL1_chr12_119984236_120099494	119989462	G G	GGCAGCAG others(2): Show GGCAGCAGCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00738.hp2 others(72): Show HG00323.hp1 HG00558.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01168.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp2 NA18979.hp2 NA18985.hp2 NA18987.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19067.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0004 a0001c0001 a0001c0009 a0002c0004	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0009t0002 a0002c0004t0002	a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 others(71): Show a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0010g0005 a0001c0001t0010g0124 a0001c0001t0010g0134 a0001c0001t0010g0201 a0001c0001t0010g0211 a0001c0001t0012g0138 a0001c0001t0012g0178 a0001c0001t0020g0175 a0001c0001t0021g0256 a0001c0001t0022g0182 a0001c0009t0002g0148 a0002c0004t0002g0200 a0002c0004t0002g0223	75	296	0.2534	9	c.-39 others(18): Show c.-398_-390dupAGCAGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	119989474	A A	AGCAGCAG others(2): Show AGCAGCAGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02027.hp1 HG02135.hp2 HG02155.hp1 others(6): Show HG02027.hp1 HG02135.hp2 HG02155.hp1 NA18945.hp2 NA18950.hp1 NA18970.hp2 NA18973.hp2 NA18983.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0136 a0001c0001t0007g0146 others(5): Show a0001c0001t0007g0003 a0001c0001t0007g0136 a0001c0001t0007g0146 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0165 a0001c0001t0007g0167	9	296	0.0304	9	c.-39 others(18): Show c.-390_-389insAGCGGCAGC	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	1/10	389	INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120045917	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02015.hp1 HG02523.hp1 others(12): Show HG00423.hp1 HG02015.hp1 HG02523.hp1 HG03453.hp1 NA18949.hp2 NA18956.hp1 NA18961.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18994.hp2 NA19058.hp1 NA19068.hp2 NA19072.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019	a0001c0001t0002g0196 a0001c0001t0005g0141 a0001c0001t0005g0170 others(12): Show a0001c0001t0002g0196 a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0173 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0019g0179	15	296	0.0507	9	c.646 others(28): Show c.646-15782_646-15774dupTAATAATAA	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICRAL_chr6_42777052_42873556	42793296	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00621.hp1 others(43): Show HG00323.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01106.hp2 HG01175.hp2 HG01261.hp2 HG01515.hp1 HG01943.hp2 HG02040.hp1 HG02080.hp2 HG02165.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02897.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18950.hp1 NA18953.hp2 NA18963.hp2 NA18977.hp2 NA18983.hp1 NA18994.hp1 NA19004.hp1 NA19004.hp2 NA19060.hp1 NA19079.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0002t0003	a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 others(43): Show a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0002g0066 a0001c0001t0002g0146 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0266 a0001c0001t0004g0127 a0001c0001t0004g0141 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0253 a0001c0001t0010g0203 a0001c0001t0019g0011 a0001c0002t0003g0195	46	270	0.1704	9	c.-10 others(30): Show c.-102+11216_-102+11224dupTTTTTTTTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42825828	A A	ACCTGTAA others(2): Show ACCTGTAATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp2 others(155): Show HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0003 a0001c0006t0001 a0002c0003t0004 a0002c0003t0007 a0002c0003t0021 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(155): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0066 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0200 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0225 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0003g0009 a0001c0001t0003g0137 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0204 a0001c0001t0003g0224 a0001c0001t0003g0263 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0141 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0004g0210 a0001c0001t0004g0219 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0005g0065 a0001c0001t0005g0143 a0001c0001t0005g0209 a0001c0001t0006g0007 a0001c0001t0006g0067 a0001c0001t0007g0037 a0001c0001t0008g0128 a0001c0001t0008g0129 a0001c0001t0010g0203 a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0013g0258 a0001c0001t0017g0015 a0001c0001t0018g0147 a0001c0001t0020g0207 a0001c0001t0025g0176 a0001c0001t0027g0064 a0001c0001t0028g0010 a0001c0002t0003g0059 a0001c0002t0003g0195 a0001c0006t0001g0192 a0002c0003t0004g0040 a0002c0003t0007g0039 a0002c0003t0021g0036 a0005c0008t0001g0171	158	270	0.5852	9	c.160 others(26): Show c.160-2663_160-2662insTGTAATCCC	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47661213	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG00733.hp1 others(36): Show HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01081.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01517.hp2 HG01952.hp2 HG02004.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18965.hp1 NA19030.hp1 NA19043.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0014	a0001c0001 a0001c0003 a0001c0008 others(11): Show a0001c0001 a0001c0003 a0001c0008 a0001c0031 a0002c0002 a0002c0005 a0002c0007 a0002c0009 a0002c0010 a0002c0034 a0003c0004 a0004c0011 a0008c0018 a0014c0016	a0001c0001t0001 a0001c0003t0003 a0001c0003t0006 others(12): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0006 a0001c0008t0006 a0001c0031t0001 a0002c0002t0002 a0002c0005t0005 a0002c0007t0002 a0002c0009t0008 a0002c0010t0001 a0002c0034t0010 a0003c0004t0004 a0004c0011t0002 a0008c0018t0012 a0014c0016t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(36): Show a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0280 a0001c0003t0003g0013 a0001c0003t0003g0044 a0001c0003t0003g0206 a0001c0003t0003g0301 a0001c0003t0006g0103 a0001c0008t0006g0288 a0001c0031t0001g0119 a0002c0002t0002g0111 a0002c0005t0005g0197 a0002c0007t0002g0137 a0002c0009t0008g0296 a0002c0010t0001g0123 a0002c0010t0001g0204 a0002c0034t0010g0295 a0003c0004t0004g0027 a0004c0011t0002g0041 a0004c0011t0002g0217 a0008c0018t0012g0022 a0014c0016t0001g0208	39	312	0.1250	9	c.-10 others(28): Show c.-107-9222_-107-9214dupAAAAAAAAA	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN3_chr8_22615418_22674121	22625098	T T	TCCTACTA others(2): Show TCCTACTACC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp2 HG00733.hp2 others(53): Show HG00323.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp2 HG01256.hp1 HG01891.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18970.hp2 NA18974.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp2 NA18998.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19078.hp1 NA19083.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0009 a0001c0011 others(2): Show a0001c0001 a0001c0009 a0001c0011 a0003c0010 a0004c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(16): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0009t0004 a0001c0011t0004 a0003c0010t0025 a0004c0006t0006	a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 others(50): Show a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0223 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0301 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0316 a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0007g0292 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0008g0302 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0011g0305 a0001c0001t0011g0310 a0001c0001t0011g0314 a0001c0001t0011g0319 a0001c0001t0013g0018 a0001c0001t0014g0249 a0001c0001t0015g0225 a0001c0001t0015g0311 a0001c0001t0017g0276 a0001c0001t0017g0277 a0001c0001t0018g0101 a0001c0001t0019g0244 a0001c0001t0020g0298 a0001c0001t0021g0228 a0001c0001t0023g0297 a0001c0009t0004g0222 a0001c0011t0004g0295 a0003c0010t0025g0224 a0004c0006t0006g0315	56	386	0.1451	9	c.339 others(24): Show c.339-736_339-735insGGTAGTAGG	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	6/8			chr8	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02145.hp1 HG03098.hp2 others(4): Show HG00423.hp1 HG02145.hp1 HG03098.hp2 NA19000.hp1 NA19074.hp2 NA19240.hp1 NA20300.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0005c0026 a0008c0043	a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 others(3): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 a0001c0005t0001 a0005c0026t0001 a0008c0043t0001	a0001c0001t0001g0219 a0001c0003t0003g0035 a0001c0003t0003g0137 others(4): Show a0001c0001t0001g0219 a0001c0003t0003g0035 a0001c0003t0003g0137 a0001c0003t0009g0031 a0001c0005t0001g0221 a0005c0026t0001g0188 a0008c0043t0001g0274	7	274	0.0256	9	c.324 others(26): Show c.3248+115_3248+123dupTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32440751	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 NA21309.hp2 HG01891.hp1 HG02280.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0037 a0002c0035 a0001c0001 a0001c0037 a0002c0035	a0001c0001t0001 a0001c0037t0001 a0002c0035t0012 a0001c0001t0001 a0001c0037t0001 a0002c0035t0012	a0001c0001t0001g0190 a0001c0037t0001g0038 a0002c0035t0012g0104 a0001c0001t0001g0190 a0001c0037t0001g0038 a0002c0035t0012g0104	3	274	0.0110	9	c.381 others(26): Show c.3811-557_3811-549dupATTATTATT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	16/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIVM_chr13_102794119_102846533	102797565	A A	AAATAATA others(2): Show AAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(33): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01243.hp2 HG01975.hp2 HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02922.hp2 HG02970.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18956.hp1 NA18975.hp1 NA18978.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020	a0001c0001t0002g0095 a0001c0001t0002g0126 a0001c0001t0004g0049 others(27): Show a0001c0001t0002g0095 a0001c0001t0002g0126 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0007g0020 a0001c0001t0007g0290 a0001c0001t0007g0292 a0001c0001t0007g0295 a0001c0001t0007g0300 a0001c0001t0011g0050 a0001c0001t0011g0303 a0001c0001t0011g0304 a0001c0001t0012g0050 a0001c0001t0012g0284 a0001c0001t0012g0285 a0001c0001t0017g0288 a0001c0001t0020g0291	36	404	0.0891	9	c.-21 others(20): Show c.-2163_-2162insAATAATAAT	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding		1553		chr13	TogoVar
BLK_chr8_11489387_11569599	11533582	C C	CGGAGGAG others(2): Show CGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00738.hp2 others(29): Show HG00323.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02965.hp2 HG02976.hp1 HG03486.hp2 HG03490.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 others(6): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0016 a0001c0003t0004 a0001c0003t0007 a0001c0004t0004	a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0262 others(26): Show a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0289 a0001c0002t0004g0102 a0001c0002t0005g0285 a0001c0002t0006g0218 a0001c0002t0006g0224 a0001c0002t0006g0234 a0001c0002t0008g0011 a0001c0002t0008g0226 a0001c0002t0016g0025 a0001c0003t0004g0209 a0001c0003t0007g0019 a0001c0004t0004g0210 a0001c0004t0004g0246	32	308	0.1039	9	c.-1- others(24): Show c.-1-9628_-1-9620dupGAGGAGGAG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLMH_chr17_30243203_30296944	30291954	T T	TCGGCGGC others(2): Show TCGGCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03139.hp1 NA21309.hp2 HG02486.hp1 HG03139.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0021 a0001c0001t0001g0189 a0004c0006t0001g0218 a0001c0001t0001g0021 a0001c0001t0001g0189 a0004c0006t0001g0218	3	298	0.0101	9	c.-14 others(18): Show c.-144_-136dupCCGCCGCCG	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding		11		chr17	TogoVar
BLOC1S3_chr19_45173784_45186800	45176646	A A	ATGATGTT others(2): Show ATGATGTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03516.hp2 HG03540.hp1 HG02451.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	3	426	0.0070	9	c.-21 others(20): Show c.-2195_-2194insTGATGTTTG	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding		2137		chr19	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	ATTTTTTT others(2): Show ATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG02615.hp1 others(6): Show HG00639.hp1 HG01123.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG03098.hp1 HG03139.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0008 a0001c0001t0023	a0001c0001t0008g0001 a0001c0001t0023g0001 a0001c0001t0008g0001 a0001c0001t0023g0001	9	426	0.0211	9	c.34 others(18): Show c.346_*354dupTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	355	INFO_REALIGN_3_PRIME	chr19	TogoVar
BLTP1_chr4_122147331_122367752	122267051	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp2 HG02071.hp1 others(5): Show HG01069.hp2 HG01361.hp2 HG02071.hp1 HG02572.hp1 HG02572.hp2 HG03098.hp2 HG03579.hp1 NA19030.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0003 a0001c0032 a0003c0006 others(1): Show a0001c0003 a0001c0032 a0003c0006 a0009c0011	a0001c0003t0001 a0001c0032t0001 a0003c0006t0001 others(2): Show a0001c0003t0001 a0001c0032t0001 a0003c0006t0001 a0009c0011t0001 a0009c0011t0007	a0001c0003t0001g0223 a0001c0032t0001g0176 a0003c0006t0001g0011 others(5): Show a0001c0003t0001g0223 a0001c0032t0001g0176 a0003c0006t0001g0011 a0003c0006t0001g0012 a0003c0006t0001g0042 a0003c0006t0001g0046 a0009c0011t0001g0112 a0009c0011t0007g0039	8	336	0.0238	9	c.749 others(26): Show c.7493+110_7493+118dupTTTTTTTTT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	46/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3A_chr6_34787083_34882514	34792126	T T	TGGCGGCG others(2): Show TGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(55): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03710.hp2 HG06807.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp2	a0002 a0007 a0008 others(3): Show a0002 a0007 a0008 a0017 a0021 a0022	a0002c0002 a0002c0032 a0007c0007 others(4): Show a0002c0002 a0002c0032 a0007c0007 a0008c0009 a0017c0026 a0021c0031 a0022c0030	a0002c0002t0002 a0002c0002t0023 a0002c0002t0040 others(8): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0040 a0002c0002t0042 a0002c0002t0046 a0002c0032t0002 a0007c0007t0024 a0008c0009t0014 a0017c0026t0041 a0021c0031t0002 a0022c0030t0002	a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(55): Show a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0023g0009 a0002c0002t0023g0010 a0002c0002t0040g0078 a0002c0002t0042g0050 a0002c0002t0046g0081 a0002c0032t0002g0073 a0007c0007t0024g0018 a0007c0007t0024g0019 a0008c0009t0014g0167 a0008c0009t0014g0168 a0008c0009t0014g0169 a0008c0009t0014g0170 a0017c0026t0041g0028 a0021c0031t0002g0070 a0022c0030t0002g0096	58	312	0.1859	9	c.-11 others(18): Show c.-118_-110dupGGCGGCGGC	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/21	109	INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34798594	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG02109.hp1 others(11): Show HG00423.hp2 HG00621.hp2 HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02647.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG04204.hp1 NA18940.hp1 NA19068.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0004 a0004c0014 others(1): Show a0002c0002 a0004c0004 a0004c0014 a0007c0007	a0002c0002t0002 a0004c0004t0005 a0004c0014t0011 others(1): Show a0002c0002t0002 a0004c0004t0005 a0004c0014t0011 a0007c0007t0024	a0002c0002t0002g0052 a0002c0002t0002g0086 a0002c0002t0002g0087 others(11): Show a0002c0002t0002g0052 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0092 a0004c0004t0005g0007 a0004c0004t0005g0012 a0004c0004t0005g0013 a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0016 a0004c0004t0005g0017 a0004c0014t0011g0042 a0004c0014t0011g0043 a0007c0007t0024g0019	14	312	0.0449	9	c.44+ others(24): Show c.44+6311_44+6319dupTTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34808346	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp1 HG02015.hp2 others(12): Show HG00609.hp2 HG01261.hp1 HG02015.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp2 HG02965.hp1 NA18955.hp2 NA18957.hp1 NA18965.hp1 NA18980.hp1 NA18994.hp1 NA18999.hp2 NA19240.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0002c0002t0040 a0002c0002t0046 others(1): Show a0002c0002t0002 a0002c0002t0040 a0002c0002t0046 a0006c0008t0013	a0002c0002t0002g0051 a0002c0002t0002g0057 a0002c0002t0002g0065 others(12): Show a0002c0002t0002g0051 a0002c0002t0002g0057 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0094 a0002c0002t0040g0078 a0002c0002t0046g0081 a0006c0008t0013g0157	15	312	0.0481	9	c.45- others(26): Show c.45-13291_45-13283dupAAAAAAAAA	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34847921	C C	CTTTCTTT others(2): Show CTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp2 others(80): Show HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp2 HG02027.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18968.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19007.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0010 others(5): Show a0002 a0004 a0010 a0016 a0017 a0019 a0021 a0022	a0002c0002 a0002c0032 a0004c0004 others(8): Show a0002c0002 a0002c0032 a0004c0004 a0004c0015 a0004c0024 a0010c0010 a0016c0028 a0017c0026 a0019c0025 a0021c0031 a0022c0030	a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 others(22): Show a0002c0002t0002 a0002c0002t0023 a0002c0002t0037 a0002c0002t0040 a0002c0002t0042 a0002c0002t0046 a0002c0032t0002 a0004c0004t0005 a0004c0004t0010 a0004c0004t0011 a0004c0004t0018 a0004c0004t0028 a0004c0004t0029 a0004c0004t0032 a0004c0004t0033 a0004c0004t0044 a0004c0015t0005 a0004c0024t0017 a0010c0010t0005 a0010c0010t0017 a0016c0028t0019 a0017c0026t0041 a0019c0025t0005 a0021c0031t0002 a0022c0030t0002	a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 others(80): Show a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0023g0009 a0002c0002t0023g0010 a0002c0002t0037g0074 a0002c0002t0040g0078 a0002c0002t0042g0050 a0002c0002t0046g0081 a0002c0032t0002g0073 a0004c0004t0005g0006 a0004c0004t0005g0008 a0004c0004t0005g0011 a0004c0004t0005g0012 a0004c0004t0005g0013 a0004c0004t0005g0014 a0004c0004t0005g0015 a0004c0004t0005g0016 a0004c0004t0005g0017 a0004c0004t0005g0021 a0004c0004t0005g0026 a0004c0004t0005g0027 a0004c0004t0005g0044 a0004c0004t0005g0045 a0004c0004t0005g0098 a0004c0004t0010g0029 a0004c0004t0010g0034 a0004c0004t0010g0035 a0004c0004t0010g0037 a0004c0004t0011g0022 a0004c0004t0018g0031 a0004c0004t0018g0032 a0004c0004t0018g0033 a0004c0004t0028g0023 a0004c0004t0029g0025 a0004c0004t0032g0161 a0004c0004t0033g0030 a0004c0004t0044g0038 a0004c0015t0005g0024 a0004c0024t0017g0005 a0010c0010t0005g0041 a0010c0010t0017g0039 a0010c0010t0017g0040 a0016c0028t0019g0305 a0017c0026t0041g0028 a0019c0025t0005g0046 a0021c0031t0002g0070 a0022c0030t0002g0096	83	312	0.2660	9	c.103 others(28): Show c.1034-7693_1034-7692insCTTTTTTTT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100093375	T T	TTTCAATG others(2): Show TTTCAATGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00673.hp2 others(68): Show HG00099.hp2 HG00544.hp1 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01928.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18942.hp2 NA18960.hp1 NA18987.hp2 NA19000.hp1 NA19030.hp1 NA19043.hp1 NA19078.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0011 a0012 a0013 a0015 a0016 a0017 a0020 a0021	a0001c0001 a0001c0004 a0001c0025 others(16): Show a0001c0001 a0001c0004 a0001c0025 a0002c0003 a0002c0010 a0003c0002 a0004c0005 a0007c0008 a0008c0013 a0009c0021 a0009c0027 a0011c0011 a0012c0028 a0013c0030 a0015c0024 a0016c0022 a0017c0020 a0020c0016 a0021c0026	a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 others(16): Show a0001c0001t0001 a0001c0004t0001 a0001c0025t0001 a0002c0003t0001 a0002c0010t0001 a0003c0002t0001 a0004c0005t0001 a0007c0008t0001 a0008c0013t0001 a0009c0021t0001 a0009c0027t0001 a0011c0011t0001 a0012c0028t0001 a0013c0030t0001 a0015c0024t0001 a0016c0022t0001 a0017c0020t0001 a0020c0016t0001 a0021c0026t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(68): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0025t0001g0092 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0032 a0002c0010t0001g0023 a0002c0010t0001g0024 a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0038 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0048 a0003c0002t0001g0056 a0003c0002t0001g0093 a0003c0002t0001g0094 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 a0007c0008t0001g0186 a0008c0013t0001g0001 a0008c0013t0001g0003 a0009c0021t0001g0046 a0009c0027t0001g0033 a0011c0011t0001g0004 a0011c0011t0001g0005 a0012c0028t0001g0087 a0013c0030t0001g0002 a0015c0024t0001g0187 a0016c0022t0001g0016 a0017c0020t0001g0006 a0020c0016t0001g0055 a0021c0026t0001g0013	71	188	0.3777	9	c.840 others(26): Show c.840+2291_840+2292insGGCATTGAA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	7/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100135281	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG01074.hp1 others(56): Show HG00544.hp1 HG00673.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp2 HG01891.hp2 HG01928.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18942.hp2 NA18960.hp1 NA19030.hp1 NA19043.hp1 NA19078.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0007 a0011 a0012 a0015 a0016 a0017 a0019 a0020 a0021 a0022	a0001c0001 a0001c0004 a0002c0003 others(12): Show a0001c0001 a0001c0004 a0002c0003 a0002c0010 a0004c0005 a0007c0008 a0011c0011 a0012c0028 a0015c0024 a0016c0022 a0017c0020 a0019c0023 a0020c0016 a0021c0026 a0022c0014	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 others(12): Show a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0002c0010t0001 a0004c0005t0001 a0007c0008t0001 a0011c0011t0001 a0012c0028t0001 a0015c0024t0001 a0016c0022t0001 a0017c0020t0001 a0019c0023t0002 a0020c0016t0001 a0021c0026t0001 a0022c0014t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(56): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0004t0001g0028 a0001c0004t0001g0029 a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0044 a0001c0004t0001g0047 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0020 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0032 a0002c0010t0001g0023 a0002c0010t0001g0024 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0053 a0004c0005t0001g0054 a0007c0008t0001g0183 a0007c0008t0001g0184 a0007c0008t0001g0185 a0007c0008t0001g0186 a0011c0011t0001g0004 a0011c0011t0001g0005 a0012c0028t0001g0087 a0015c0024t0001g0187 a0016c0022t0001g0016 a0017c0020t0001g0006 a0019c0023t0002g0177 a0020c0016t0001g0055 a0021c0026t0001g0013 a0022c0014t0001g0104	59	188	0.3138	9	c.44+ others(24): Show c.44+7302_44+7310dupAAAAAAAAA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40443327	C C	CCACCCCG others(2): Show CCACCCCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00738.hp2 others(7): Show HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01358.hp2 HG01934.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(2): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0113 a0001c0001t0002g0190	10	362	0.0276	9	c.45 others(20): Show c.4561_*4562insAGCGGGGTG	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding		4440		chr19	TogoVar
BMAL1_chr11_13272790_13392266	13290559	A A	ATGTTATT others(2): Show ATGTTATTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02145.hp2 others(10): Show HG00741.hp2 HG02055.hp1 HG02145.hp2 HG02572.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03209.hp2 HG03486.hp1 HG03492.hp2 HG03688.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0133 a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0004g0022 a0001c0001t0004g0023	13	314	0.0414	9	c.-26 others(30): Show c.-263+12637_-263+12638insGTTATTATT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15591629	A A	ACACACAC others(2): Show ACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03486.hp1 HG03516.hp1 others(1): Show HG03195.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0078 a0001c0001t0005g0119 a0001c0001t0005g0121 others(1): Show a0001c0001t0005g0078 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0009g0126	4	291	0.0138	9	c.48 others(20): Show c.4800_*4801insCACACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3371		chr16	TogoVar
BMP1_chr8_22160372_22206482	22183591	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG03195.hp2 others(2): Show HG02647.hp1 HG02970.hp1 HG03195.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0131 a0001c0001t0001g0343 a0001c0001t0001g0369 others(2): Show a0001c0001t0001g0131 a0001c0001t0001g0343 a0001c0001t0001g0369 a0001c0001t0001g0372 a0001c0014t0001g0371	5	418	0.0120	9	c.107 others(28): Show c.1077+3133_1077+3141dupATTATTATT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22183591	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG03195.hp2 others(2): Show HG02647.hp1 HG02970.hp1 HG03195.hp2 HG03471.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0027 others(1): Show a0001c0001 a0001c0003 a0001c0027 a0001c0030	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0001c0027t0001 a0001c0030t0001	a0001c0001t0001g0366 a0001c0003t0001g0114 a0001c0003t0004g0339 others(2): Show a0001c0001t0001g0366 a0001c0003t0001g0114 a0001c0003t0004g0339 a0001c0027t0001g0369 a0001c0030t0001g0368	5	408	0.0123	9	c.107 others(28): Show c.1077+3133_1077+3141dupATTATTATT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP3_chr4_81025708_81062627	81043590	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01975.hp2 HG03195.hp2 others(6): Show HG00280.hp1 HG01975.hp2 HG03195.hp2 HG03490.hp2 HG04204.hp1 NA18946.hp2 NA18992.hp1 NA19002.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0002t0002 a0002c0002t0003 a0002c0002t0011	a0002c0002t0002g0012 a0002c0002t0002g0107 a0002c0002t0003g0105 others(3): Show a0002c0002t0002g0012 a0002c0002t0002g0107 a0002c0002t0003g0105 a0002c0002t0003g0132 a0002c0002t0003g0138 a0002c0002t0011g0012	9	382	0.0236	9	c.317 others(26): Show c.317-2141_317-2133dupTTTTTTTTT	BMP3	ENSG00000152785.8	transcript	ENST00000282701.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7795026	T T	TGTTTTTC others(2): Show TGTTTTTCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(109): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18941.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19076.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0009 others(7): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0012 a0002c0003 a0002c0004 a0003c0005 a0003c0006 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0031 a0001c0002t0032 a0001c0009t0001 a0001c0011t0003 a0001c0012t0018 a0002c0003t0001 a0002c0003t0003 a0002c0003t0012 a0002c0004t0001 a0002c0004t0002 a0003c0005t0004 a0003c0006t0007 a0008c0016t0001	a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 others(109): Show a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0002g0143 a0001c0001t0002g0174 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0198 a0001c0001t0003g0206 a0001c0001t0003g0225 a0001c0001t0012g0192 a0001c0001t0013g0054 a0001c0001t0013g0305 a0001c0001t0041g0031 a0001c0002t0001g0082 a0001c0002t0001g0145 a0001c0002t0001g0184 a0001c0002t0001g0223 a0001c0002t0002g0039 a0001c0002t0002g0084 a0001c0002t0002g0111 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0172 a0001c0002t0002g0182 a0001c0002t0002g0185 a0001c0002t0002g0191 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0203 a0001c0002t0002g0209 a0001c0002t0002g0213 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0031g0091 a0001c0002t0032g0109 a0001c0009t0001g0193 a0001c0011t0003g0154 a0001c0012t0018g0066 a0001c0012t0018g0067 a0002c0003t0001g0227 a0002c0003t0001g0254 a0002c0003t0001g0258 a0002c0003t0001g0265 a0002c0003t0001g0268 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0003g0259 a0002c0003t0003g0308 a0002c0003t0012g0232 a0002c0004t0001g0289 a0002c0004t0002g0249 a0002c0004t0002g0263 a0002c0004t0002g0264 a0002c0004t0002g0266 a0002c0004t0002g0267 a0002c0004t0002g0271 a0002c0004t0002g0272 a0002c0004t0002g0275 a0002c0004t0002g0290 a0002c0004t0002g0295 a0003c0005t0004g0007 a0003c0005t0004g0015 a0003c0005t0004g0018 a0003c0005t0004g0024 a0003c0005t0004g0027 a0003c0006t0007g0006 a0008c0016t0001g0101	112	308	0.3636	9	c.665 others(28): Show c.665-50109_665-50101dupTTCCAGTTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7813086	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01975.hp2 others(6): Show HG00558.hp1 HG00597.hp2 HG01975.hp2 HG02735.hp2 HG03239.hp2 NA18941.hp2 NA18988.hp1 NA19076.hp2 NA19085.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0005 a0003c0006	a0001c0001t0003 a0001c0002t0002 a0002c0003t0001 others(3): Show a0001c0001t0003 a0001c0002t0002 a0002c0003t0001 a0002c0004t0002 a0003c0005t0004 a0003c0006t0007	a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0206 others(6): Show a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0206 a0001c0002t0002g0118 a0002c0003t0001g0233 a0002c0003t0001g0269 a0002c0004t0002g0272 a0003c0005t0004g0007 a0003c0006t0007g0021	9	308	0.0292	9	c.665 others(28): Show c.665-32039_665-32031dupAAAAAAAAA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMPER_chr7_33900539_34161427	34065248	C C	CTCTCTCT others(2): Show CTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp2 HG03927.hp1 HG02630.hp2 HG02647.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0003g0110 a0001c0002t0002g0161 a0001c0003t0001g0107 a0001c0001t0003g0110 a0001c0002t0002g0161 a0001c0003t0001g0107	3	232	0.0129	9	c.107 others(28): Show c.1078+3201_1078+3202insTCTCTCTCT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	11/14			chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86809608	T T	TTTTTTTC others(2): Show TTTTTTTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG02451.hp2 others(3): Show HG01884.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0006 a0001c0003t0058 a0002c0001t0034 others(1): Show a0001c0002t0006 a0001c0003t0058 a0002c0001t0034 a0002c0001t0068	a0001c0002t0006g0011 a0001c0002t0006g0163 a0001c0003t0058g0276 others(3): Show a0001c0002t0006g0011 a0001c0002t0006g0163 a0001c0003t0058g0276 a0002c0001t0034g0147 a0002c0001t0034g0148 a0002c0001t0068g0146	6	278	0.0216	9	c.-26 others(30): Show c.-267-29253_-267-29252insTTCTCTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02080.hp1 HG02109.hp1 others(6): Show HG01081.hp2 HG02080.hp1 HG02109.hp1 HG02572.hp2 HG03471.hp2 HG03486.hp2 NA18943.hp1 NA18947.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0010 a0001c0002t0025 a0001c0002t0065 others(3): Show a0001c0002t0010 a0001c0002t0025 a0001c0002t0065 a0001c0002t0080 a0002c0001t0001 a0002c0001t0002	a0001c0002t0010g0028 a0001c0002t0025g0029 a0001c0002t0065g0251 others(6): Show a0001c0002t0010g0028 a0001c0002t0025g0029 a0001c0002t0065g0251 a0001c0002t0080g0172 a0002c0001t0001g0167 a0002c0001t0001g0204 a0002c0001t0002g0250 a0002c0001t0002g0254 a0002c0001t0002g0256	9	278	0.0324	9	c.-26 others(28): Show c.-267-3285_-267-3277dupAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86866402	T T	TTTTTTTT others(2): Show TTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00621.hp1 others(50): Show HG00280.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01074.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02080.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02723.hp1 HG02738.hp1 HG03017.hp2 HG03041.hp2 HG03669.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18994.hp2 NA18995.hp1 NA19010.hp2 NA19062.hp2 NA19068.hp2 NA19074.hp1 NA19088.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 others(11): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0021 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0045 a0001c0002t0046 a0001c0002t0048 a0001c0002t0049 a0001c0005t0004	a0001c0002t0003g0048 a0001c0002t0003g0069 a0001c0002t0003g0075 others(50): Show a0001c0002t0003g0048 a0001c0002t0003g0069 a0001c0002t0003g0075 a0001c0002t0003g0081 a0001c0002t0003g0083 a0001c0002t0003g0084 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0121 a0001c0002t0003g0140 a0001c0002t0003g0143 a0001c0002t0004g0049 a0001c0002t0004g0051 a0001c0002t0004g0067 a0001c0002t0004g0071 a0001c0002t0004g0079 a0001c0002t0004g0088 a0001c0002t0004g0105 a0001c0002t0004g0118 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0004g0277 a0001c0002t0016g0094 a0001c0002t0016g0098 a0001c0002t0016g0099 a0001c0002t0016g0108 a0001c0002t0017g0039 a0001c0002t0017g0104 a0001c0002t0017g0117 a0001c0002t0021g0074 a0001c0002t0021g0154 a0001c0002t0021g0155 a0001c0002t0027g0014 a0001c0002t0027g0015 a0001c0002t0028g0145 a0001c0002t0029g0066 a0001c0002t0029g0124 a0001c0002t0030g0139 a0001c0002t0030g0144 a0001c0002t0045g0111 a0001c0002t0046g0062 a0001c0002t0048g0080 a0001c0002t0049g0085 a0001c0005t0004g0063	53	278	0.1907	9	c.-15 others(28): Show c.-152-9457_-152-9456insCTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86925721	C C	CTTTTTTT others(2): Show CTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02155.hp2 HG02897.hp2 others(2): Show HG02080.hp2 HG02155.hp2 HG02897.hp2 HG02976.hp2 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0027 a0001c0002t0046 a0001c0003t0055 others(1): Show a0001c0002t0027 a0001c0002t0046 a0001c0003t0055 a0001c0003t0056	a0001c0002t0027g0014 a0001c0002t0027g0015 a0001c0002t0046g0062 others(2): Show a0001c0002t0027g0014 a0001c0002t0027g0015 a0001c0002t0046g0062 a0001c0003t0055g0006 a0001c0003t0056g0252	5	278	0.0180	9	c.20 others(20): Show c.2011_*2019dupTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13	2020	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94818190	A A	ATTGTGCT others(2): Show ATTGTGCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp2 NA20129.hp2 HG01243.hp2 HG02809.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0055 a0001c0001t0005 a0001c0001t0011 a0001c0001t0055	a0001c0001t0005g0013 a0001c0001t0011g0012 a0001c0001t0055g0134 a0001c0001t0005g0013 a0001c0001t0011g0012 a0001c0001t0055g0134	3	226	0.0133	9	c.-18 others(30): Show c.-182-57639_-182-57631dupTGTGCTTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202376511	A A	AGGCGGCG others(2): Show AGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG01071.hp1 others(17): Show HG00642.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG02257.hp2 HG02293.hp2 HG02622.hp1 HG02698.hp1 HG03139.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0003 a0001c0001t0014 a0001c0001t0050 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0050 a0001c0002t0051 a0003c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 others(17): Show a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0014g0033 a0001c0001t0014g0142 a0001c0001t0014g0144 a0001c0001t0050g0017 a0001c0002t0051g0057 a0003c0008t0003g0030	20	224	0.0893	9	c.-93 others(18): Show c.-936_-928dupGGCGGCGGC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/13	927	INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTTTCTT others(2): Show TTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00741.hp2 others(37): Show HG00558.hp2 HG00609.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01169.hp2 HG01192.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02071.hp1 HG02132.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG04115.hp1 NA18906.hp1 NA18941.hp2 NA18945.hp1 NA18952.hp2 NA18970.hp2 NA19009.hp1 NA19070.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0042 a0001c0001t0048 a0001c0002t0002 a0002c0003t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0044 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0024g0072 a0001c0001t0025g0178 a0001c0001t0028g0003 a0001c0001t0030g0163 a0001c0001t0032g0182 a0001c0001t0042g0191 a0001c0001t0048g0013 a0001c0002t0002g0005 a0002c0003t0001g0004 a0002c0003t0001g0006 a0004c0007t0001g0112	40	224	0.1786	9	c.76+ others(24): Show c.76+7041_76+7049dupTCTTTCTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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