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
ACACA_chr17_37079992_37411836	37331094	CATTTATT others(5): Show CATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02451.hp2 others(4): Show HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02809.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0012 a0001c0004t0005 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0005 a0001c0006t0005	a0001c0001t0001g0096 a0001c0001t0012g0048 a0001c0001t0012g0095 others(4): Show a0001c0001t0001g0096 a0001c0001t0012g0048 a0001c0001t0012g0095 a0001c0004t0005g0117 a0001c0004t0005g0120 a0001c0004t0005g0277 a0001c0006t0005g0119	7	299	0.0234	-12	c.86- others(25): Show c.86-681_86-670delAAATAAATAAAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	2/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37342406	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	299	0.0033	-12	c.39- others(27): Show c.39-2568_39-2557delTTTTTTTTTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37377659	CAATAAAT others(5): Show CAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG02970.hp2 others(3): Show HG02451.hp1 HG02886.hp1 HG02970.hp2 NA18972.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0003t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0025 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0025 a0001c0001t0011g0094 a0001c0001t0011g0105 a0001c0003t0001g0056	6	299	0.0201	-12	c.38+ others(29): Show c.38+28591_38+28602delTATTTATTTATT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37377694	TAAATAAA others(5): Show TAAATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	299	0.0033	-12	c.38+ others(29): Show c.38+28556_38+28567delTTTTATTTATTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390140	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01891.hp1 HG01981.hp2 others(5): Show HG00140.hp2 HG01891.hp1 HG01981.hp2 HG02622.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0018 a0001c0001t0035 others(3): Show a0001c0001t0003 a0001c0001t0018 a0001c0001t0035 a0001c0002t0001 a0001c0003t0001 a0001c0003t0019	a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 others(5): Show a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0081 a0001c0001t0018g0002 a0001c0001t0035g0299 a0001c0002t0001g0086 a0001c0003t0001g0060 a0001c0003t0019g0028	8	299	0.0268	-12	c.38+ others(29): Show c.38+16110_38+16121delTATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390203	ATAATTAT others(5): Show ATAATTATATATT	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	299	0.0033	-12	c.38+ others(29): Show c.38+16047_38+16058delAATATATAATTA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03516.hp2 HG01358.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0034 a0001c0004t0033 a0001c0002t0034 a0001c0004t0033	a0001c0002t0034g0297 a0001c0004t0033g0298 a0001c0002t0034g0297 a0001c0004t0033g0298	2	299	0.0067	-12	c.38+ others(29): Show c.38+15946_38+15957delTATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109133861	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01167.hp2 others(9): Show HG00544.hp1 HG00558.hp1 HG01167.hp2 HG02257.hp1 HG02717.hp1 HG02723.hp2 HG03130.hp2 NA18947.hp1 NA18947.hp2 NA18966.hp1 NA18974.hp1 NA19074.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0016	a0001c0010 a0001c0013 a0001c0039 others(5): Show a0001c0010 a0001c0013 a0001c0039 a0001c0058 a0002c0036 a0003c0005 a0008c0044 a0016c0047	a0001c0010t0001 a0001c0010t0009 a0001c0013t0001 others(6): Show a0001c0010t0001 a0001c0010t0009 a0001c0013t0001 a0001c0039t0004 a0001c0058t0016 a0002c0036t0006 a0003c0005t0002 a0008c0044t0025 a0016c0047t0002	a0001c0010t0001g0188 a0001c0010t0009g0186 a0001c0013t0001g0153 others(9): Show a0001c0010t0001g0188 a0001c0010t0009g0186 a0001c0013t0001g0153 a0001c0013t0001g0163 a0001c0013t0001g0237 a0001c0039t0004g0116 a0001c0058t0016g0187 a0002c0036t0006g0223 a0003c0005t0002g0131 a0008c0044t0025g0166 a0016c0047t0002g0175 a0016c0047t0002g0176	12	308	0.0390	-12	c.-9- others(27): Show c.-9-5534_-9-5523delATTTTTTTTTTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109133863	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01261.hp2 HG01515.hp1 HG01884.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0012 a0017 a0019 a0020 a0022 a0024 a0025 a0029 a0033 a0037 a0038	a0001c0010 a0001c0012 a0001c0013 others(37): Show a0001c0010 a0001c0012 a0001c0013 a0001c0034 a0001c0045 a0001c0055 a0001c0060 a0001c0087 a0001c0089 a0002c0020 a0002c0021 a0002c0028 a0002c0036 a0002c0061 a0002c0086 a0002c0088 a0003c0001 a0003c0005 a0003c0081 a0003c0083 a0004c0008 a0004c0040 a0004c0041 a0005c0009 a0005c0019 a0010c0042 a0010c0073 a0010c0075 a0011c0027 a0012c0035 a0017c0123 a0019c0093 a0020c0052 a0022c0084 a0024c0091 a0025c0090 a0029c0085 a0033c0063 a0037c0072 a0038c0082	a0001c0010t0002 a0001c0012t0002 a0001c0013t0001 others(44): Show a0001c0010t0002 a0001c0012t0002 a0001c0013t0001 a0001c0034t0001 a0001c0045t0002 a0001c0055t0001 a0001c0060t0002 a0001c0087t0001 a0001c0089t0002 a0002c0020t0003 a0002c0021t0003 a0002c0021t0006 a0002c0028t0003 a0002c0036t0003 a0002c0061t0003 a0002c0086t0003 a0002c0088t0006 a0003c0001t0001 a0003c0001t0004 a0003c0001t0008 a0003c0005t0002 a0003c0081t0002 a0003c0083t0001 a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 a0004c0041t0002 a0005c0009t0003 a0005c0009t0006 a0005c0019t0003 a0005c0019t0006 a0010c0042t0003 a0010c0073t0014 a0010c0075t0003 a0011c0027t0004 a0011c0027t0013 a0012c0035t0004 a0017c0123t0015 a0019c0093t0001 a0020c0052t0001 a0022c0084t0004 a0024c0091t0002 a0025c0090t0003 a0029c0085t0003 a0033c0063t0010 a0037c0072t0001 a0038c0082t0002	a0001c0010t0002g0261 a0001c0012t0002g0045 a0001c0012t0002g0250 others(102): Show a0001c0010t0002g0261 a0001c0012t0002g0045 a0001c0012t0002g0250 a0001c0012t0002g0251 a0001c0012t0002g0259 a0001c0012t0002g0262 a0001c0013t0001g0248 a0001c0013t0001g0256 a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0045t0002g0146 a0001c0045t0002g0234 a0001c0055t0001g0226 a0001c0060t0002g0272 a0001c0087t0001g0236 a0001c0089t0002g0162 a0002c0020t0003g0120 a0002c0020t0003g0232 a0002c0020t0003g0233 a0002c0020t0003g0273 a0002c0021t0003g0252 a0002c0021t0003g0253 a0002c0021t0006g0239 a0002c0021t0006g0255 a0002c0028t0003g0160 a0002c0028t0003g0179 a0002c0028t0003g0228 a0002c0036t0003g0161 a0002c0061t0003g0062 a0002c0086t0003g0260 a0002c0088t0006g0247 a0003c0001t0001g0064 a0003c0001t0001g0087 a0003c0001t0001g0132 a0003c0001t0001g0136 a0003c0001t0001g0137 a0003c0001t0001g0138 a0003c0001t0001g0140 a0003c0001t0001g0141 a0003c0001t0001g0142 a0003c0001t0001g0143 a0003c0001t0001g0145 a0003c0001t0001g0147 a0003c0001t0001g0149 a0003c0001t0001g0154 a0003c0001t0001g0158 a0003c0001t0001g0178 a0003c0001t0001g0265 a0003c0001t0001g0297 a0003c0001t0001g0298 a0003c0001t0004g0139 a0003c0001t0004g0266 a0003c0001t0008g0128 a0003c0005t0002g0059 a0003c0005t0002g0060 a0003c0005t0002g0129 a0003c0005t0002g0134 a0003c0005t0002g0240 a0003c0005t0002g0245 a0003c0005t0002g0246 a0003c0005t0002g0264 a0003c0005t0002g0299 a0003c0081t0002g0230 a0003c0083t0001g0151 a0004c0008t0001g0198 a0004c0008t0001g0218 a0004c0008t0001g0221 a0004c0008t0001g0227 a0004c0008t0008g0216 a0004c0008t0008g0219 a0004c0008t0008g0263 a0004c0040t0002g0213 a0004c0040t0002g0215 a0004c0041t0002g0222 a0004c0041t0002g0224 a0005c0009t0003g0061 a0005c0009t0003g0144 a0005c0009t0003g0164 a0005c0009t0003g0304 a0005c0009t0006g0148 a0005c0009t0006g0177 a0005c0009t0006g0257 a0005c0019t0003g0135 a0005c0019t0003g0152 a0005c0019t0003g0271 a0005c0019t0006g0076 a0010c0042t0003g0209 a0010c0042t0003g0220 a0010c0073t0014g0208 a0010c0075t0003g0214 a0011c0027t0004g0150 a0011c0027t0004g0249 a0011c0027t0013g0065 a0012c0035t0004g0063 a0012c0035t0004g0082 a0017c0123t0015g0058 a0019c0093t0001g0159 a0020c0052t0001g0210 a0022c0084t0004g0254 a0024c0091t0002g0174 a0025c0090t0003g0130 a0029c0085t0003g0238 a0033c0063t0010g0117 a0037c0072t0001g0217 a0038c0082t0002g0127	105	308	0.3409	-12	c.-9- others(27): Show c.-9-5526_-9-5515delTTTTTTTTTTTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140259	CTTCCTTC others(5): Show CTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02622.hp2 HG02809.hp2 others(8): Show HG00597.hp2 HG02622.hp2 HG02809.hp2 HG02970.hp1 NA18950.hp2 NA18960.hp2 NA18988.hp1 NA19003.hp2 NA19043.hp2 NA19057.hp2 NA19091.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0023 a0028	a0001c0002 a0001c0003 a0001c0029 others(7): Show a0001c0002 a0001c0003 a0001c0029 a0001c0048 a0001c0049 a0002c0024 a0007c0030 a0009c0103 a0023c0099 a0028c0100	a0001c0002t0001 a0001c0003t0002 a0001c0029t0011 others(7): Show a0001c0002t0001 a0001c0003t0002 a0001c0029t0011 a0001c0048t0004 a0001c0049t0001 a0002c0024t0003 a0007c0030t0004 a0009c0103t0004 a0023c0099t0001 a0028c0100t0001	a0001c0002t0001g0114 a0001c0002t0001g0191 a0001c0003t0002g0099 others(8): Show a0001c0002t0001g0114 a0001c0002t0001g0191 a0001c0003t0002g0099 a0001c0029t0011g0090 a0001c0048t0004g0307 a0001c0049t0001g0289 a0002c0024t0003g0036 a0007c0030t0004g0285 a0009c0103t0004g0165 a0023c0099t0001g0084 a0028c0100t0001g0070	11	308	0.0357	-12	c.653 others(27): Show c.653+213_653+224delTTTCCTTCCTTC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109140271	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(39): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01943.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02922.hp1 HG03225.hp2 HG03516.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp1 NA18522.hp1 NA18946.hp2 NA18955.hp1 NA18961.hp1 NA18970.hp1 NA18974.hp1 NA18981.hp1 NA18992.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19085.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0016 a0017 a0021 a0026 a0030 a0031 a0033 a0037	a0001c0011 a0001c0022 a0001c0034 others(28): Show a0001c0011 a0001c0022 a0001c0034 a0001c0038 a0001c0054 a0001c0055 a0001c0124 a0002c0017 a0002c0036 a0002c0070 a0002c0118 a0003c0001 a0003c0005 a0004c0008 a0004c0040 a0004c0041 a0005c0009 a0005c0019 a0006c0078 a0007c0037 a0010c0042 a0010c0073 a0010c0075 a0016c0047 a0017c0123 a0021c0068 a0026c0066 a0030c0071 a0031c0067 a0033c0063 a0037c0072	a0001c0011t0001 a0001c0011t0008 a0001c0022t0004 others(30): Show a0001c0011t0001 a0001c0011t0008 a0001c0022t0004 a0001c0034t0001 a0001c0038t0001 a0001c0054t0001 a0001c0055t0001 a0001c0124t0012 a0002c0017t0003 a0002c0036t0006 a0002c0070t0005 a0002c0118t0005 a0003c0001t0001 a0003c0005t0002 a0004c0008t0001 a0004c0008t0008 a0004c0040t0002 a0004c0041t0002 a0005c0009t0003 a0005c0019t0003 a0006c0078t0001 a0007c0037t0004 a0010c0042t0003 a0010c0073t0014 a0010c0075t0003 a0016c0047t0002 a0017c0123t0015 a0021c0068t0001 a0026c0066t0015 a0030c0071t0002 a0031c0067t0003 a0033c0063t0010 a0037c0072t0001	a0001c0011t0001g0013 a0001c0011t0001g0157 a0001c0011t0008g0018 others(39): Show a0001c0011t0001g0013 a0001c0011t0001g0157 a0001c0011t0008g0018 a0001c0022t0004g0007 a0001c0034t0001g0211 a0001c0034t0001g0212 a0001c0038t0001g0201 a0001c0054t0001g0203 a0001c0055t0001g0226 a0001c0124t0012g0197 a0002c0017t0003g0025 a0002c0036t0006g0223 a0002c0070t0005g0199 a0002c0118t0005g0231 a0003c0001t0001g0297 a0003c0001t0001g0298 a0003c0005t0002g0245 a0003c0005t0002g0299 a0004c0008t0001g0218 a0004c0008t0001g0221 a0004c0008t0001g0227 a0004c0008t0008g0216 a0004c0008t0008g0219 a0004c0040t0002g0213 a0004c0040t0002g0215 a0004c0041t0002g0222 a0004c0041t0002g0224 a0005c0009t0003g0304 a0005c0019t0003g0271 a0006c0078t0001g0181 a0007c0037t0004g0200 a0010c0042t0003g0220 a0010c0073t0014g0208 a0010c0075t0003g0214 a0016c0047t0002g0175 a0017c0123t0015g0058 a0021c0068t0001g0202 a0026c0066t0015g0115 a0030c0071t0002g0040 a0031c0067t0003g0027 a0033c0063t0010g0117 a0037c0072t0001g0217	42	308	0.1364	-12	c.653 others(27): Show c.653+282_653+293delTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109144750	CTTTCTTT others(5): Show CTTTCTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp2 HG03195.hp1 HG06807.hp2	a0007 a0039 a0007 a0039	a0007c0037 a0039c0080 a0007c0037 a0039c0080	a0007c0037t0004 a0039c0080t0010 a0007c0037t0004 a0039c0080t0010	a0007c0037t0004g0073 a0039c0080t0010g0071 a0007c0037t0004g0073 a0039c0080t0010g0071	2	308	0.0065	-12	c.653 others(29): Show c.653+4696_653+4707delCTTTTTTTTTTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	2/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109187431	TTTTATTT others(5): Show TTTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18906.hp1 HG03486.hp2 NA18906.hp1	a0001 a0007 a0001 a0007	a0001c0069 a0007c0104 a0001c0069 a0007c0104	a0001c0069t0002 a0007c0104t0004 a0001c0069t0002 a0007c0104t0004	a0001c0069t0002g0204 a0007c0104t0004g0183 a0001c0069t0002g0204 a0007c0104t0004g0183	2	308	0.0065	-12	c.198 others(29): Show c.1981-532_1981-521delATTTATTTATTT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188171	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01175.hp1 others(27): Show HG00099.hp2 HG00323.hp1 HG01175.hp1 HG01884.hp1 HG01943.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp2 NA18987.hp1 NA18992.hp2 NA19009.hp2 NA19030.hp2 NA19060.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0008 a0009 a0015 a0017	a0001c0002 a0001c0003 a0001c0016 others(22): Show a0001c0002 a0001c0003 a0001c0016 a0001c0032 a0001c0064 a0001c0095 a0001c0105 a0001c0106 a0001c0107 a0001c0109 a0001c0111 a0002c0006 a0002c0024 a0002c0110 a0006c0026 a0006c0078 a0006c0113 a0007c0037 a0008c0015 a0008c0044 a0009c0096 a0009c0103 a0015c0114 a0015c0119 a0017c0123	a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 others(24): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0016t0009 a0001c0032t0004 a0001c0064t0009 a0001c0095t0001 a0001c0105t0004 a0001c0106t0001 a0001c0107t0012 a0001c0109t0002 a0001c0111t0001 a0002c0006t0005 a0002c0024t0003 a0002c0110t0003 a0006c0026t0002 a0006c0026t0016 a0006c0078t0001 a0006c0113t0004 a0007c0037t0004 a0008c0015t0005 a0008c0044t0003 a0009c0096t0009 a0009c0103t0004 a0015c0114t0004 a0015c0119t0004 a0017c0123t0015	a0001c0002t0001g0085 a0001c0003t0002g0077 a0001c0003t0002g0099 others(27): Show a0001c0002t0001g0085 a0001c0003t0002g0077 a0001c0003t0002g0099 a0001c0003t0004g0300 a0001c0016t0009g0287 a0001c0016t0009g0305 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0064t0009g0184 a0001c0095t0001g0133 a0001c0105t0004g0296 a0001c0106t0001g0293 a0001c0107t0012g0196 a0001c0109t0002g0276 a0001c0111t0001g0275 a0002c0006t0005g0294 a0002c0024t0003g0093 a0002c0110t0003g0268 a0006c0026t0002g0155 a0006c0026t0016g0066 a0006c0078t0001g0181 a0006c0113t0004g0031 a0007c0037t0004g0073 a0008c0015t0005g0057 a0008c0044t0003g0182 a0009c0096t0009g0295 a0009c0103t0004g0165 a0015c0114t0004g0009 a0015c0119t0004g0169 a0017c0123t0015g0058	30	308	0.0974	-12	c.214 others(27): Show c.2144+61_2144+72delTTCCTTCCTTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109188411	TTCCTTCC others(5): Show TTCCTTCCTCCCG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA20129.hp1 HG02071.hp1 NA20129.hp1	a0004 a0009 a0004 a0009	a0004c0008 a0009c0096 a0004c0008 a0009c0096	a0004c0008t0001 a0009c0096t0009 a0004c0008t0001 a0009c0096t0009	a0004c0008t0001g0227 a0009c0096t0009g0295 a0004c0008t0001g0227 a0009c0096t0009g0295	2	308	0.0065	-12	c.214 others(29): Show c.2144+260_2144+271delCGTCCTTCCTCC	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	13/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109210124	CATGTATG others(5): Show CATGTATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02523.hp1 NA19009.hp2 HG00323.hp1 HG02523.hp1 NA19009.hp2	a0006 a0006	a0006c0026 a0006c0026	a0006c0026t0002 a0006c0026t0016 a0006c0026t0002 a0006c0026t0016	a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066	3	308	0.0097	-12	c.324 others(29): Show c.3249+774_3249+785delGTATGTGTGTAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	TTATATAT others(5): Show TTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02257.hp1 others(14): Show HG01891.hp1 HG01891.hp2 HG02257.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp1 NA19030.hp2	a0001 a0006 a0009 others(2): Show a0001 a0006 a0009 a0034 a0036	a0001c0003 a0001c0004 a0001c0032 others(9): Show a0001c0003 a0001c0004 a0001c0032 a0001c0039 a0001c0074 a0006c0031 a0006c0113 a0006c0121 a0006c0122 a0009c0103 a0034c0102 a0036c0094	a0001c0003t0004 a0001c0004t0017 a0001c0032t0004 others(10): Show a0001c0003t0004 a0001c0004t0017 a0001c0032t0004 a0001c0039t0004 a0001c0074t0004 a0006c0031t0004 a0006c0031t0013 a0006c0113t0004 a0006c0121t0004 a0006c0122t0004 a0009c0103t0004 a0034c0102t0018 a0036c0094t0004	a0001c0003t0004g0074 a0001c0003t0004g0300 a0001c0004t0017g0003 others(14): Show a0001c0003t0004g0074 a0001c0003t0004g0300 a0001c0004t0017g0003 a0001c0032t0004g0291 a0001c0032t0004g0292 a0001c0039t0004g0039 a0001c0039t0004g0116 a0001c0074t0004g0229 a0006c0031t0004g0002 a0006c0031t0004g0206 a0006c0031t0013g0205 a0006c0113t0004g0031 a0006c0121t0004g0170 a0006c0122t0004g0167 a0009c0103t0004g0165 a0034c0102t0018g0195 a0036c0094t0004g0072	17	308	0.0552	-12	c.678 others(29): Show c.6787+503_6787+514delATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132568801	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02257.hp1 others(17): Show HG01109.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0014 a0003c0003 a0006c0014	a0003c0003t0001 a0006c0014t0001 a0003c0003t0001 a0006c0014t0001	a0003c0003t0001g0011 a0003c0003t0001g0017 a0003c0003t0001g0018 others(16): Show a0003c0003t0001g0011 a0003c0003t0001g0017 a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0176 a0003c0003t0001g0186 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0275 a0006c0014t0001g0274	20	316	0.0633	-12	c.200 others(31): Show c.2001+6959_2001+6970delTTTTTTTTTTTT	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	17/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132641560	TGAAGAAG others(5): Show TGAAGAAGAAGAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02258.hp1 others(15): Show HG01109.hp2 HG01891.hp1 HG02258.hp1 HG02280.hp1 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA19001.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0161 a0001c0001t0001g0162 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0215 a0001c0001t0001g0276	18	316	0.0570	-12	c.537 others(27): Show c.537+400_537+411delTTCTTCTTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACAD11_chr3_132553141_132664809	132641692	GGAAGAGG others(5): Show GGAAGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02723.hp2 others(2): Show HG02451.hp1 HG02486.hp1 HG02723.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0277 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279	5	316	0.0158	-12	c.537 others(27): Show c.537+268_537+279delTTCTTCCTCTTC	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	4/19			chr3	TogoVar
ACAD9_chr3_128874620_128918114	128875965	CAAGGGAA others(5): Show CAAGGGAATGTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02145.hp2 HG02615.hp1 others(4): Show HG01346.hp1 HG02145.hp2 HG02615.hp1 HG02818.hp2 HG03041.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0165 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0183	7	372	0.0188	-12	c.-37 others(23): Show c.-3726_-3715delAAGGGAATGTAA	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding		3654		chr3	TogoVar
ACAD9_chr3_128874620_128918114	128899523	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG01258.hp1 others(4): Show HG00639.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG01981.hp1 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0006 a0001c0015t0002 a0001c0003t0006 a0001c0015t0002	a0001c0003t0006g0045 a0001c0003t0006g0046 a0001c0003t0006g0255 others(2): Show a0001c0003t0006g0045 a0001c0003t0006g0046 a0001c0003t0006g0255 a0001c0003t0006g0256 a0001c0015t0002g0087	7	372	0.0188	-12	c.808 others(26): Show c.808+91_808+102delGTGTGTGTGTGT	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACADM_chr1_75719709_75768679	75760544	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02970.hp1 NA20129.hp2 HG02965.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0138 a0001c0001t0007g0137 a0001c0001t0007g0139 a0001c0001t0002g0138 a0001c0001t0007g0137 a0001c0001t0007g0139	3	364	0.0082	-12	c.946 others(27): Show c.946-553_946-542delAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75766324	GGATTAAA others(5): Show GGATTAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0349 a0001c0001t0002g0349	1	364	0.0028	-12	c.35 others(23): Show c.3562_*3573delGATTAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding		2646		chr1	TogoVar
ACADSB_chr10_123004006_123063290	123045131	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01243.hp2 others(16): Show HG00642.hp2 HG01109.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01928.hp1 HG02145.hp1 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp1 HG03471.hp2 HG04204.hp2 NA18942.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0004c0012 a0006c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0047 a0001c0009t0005 a0002c0003t0034 a0004c0012t0005 a0006c0008t0005	a0001c0001t0001g0259 a0001c0001t0005g0018 a0001c0001t0005g0102 others(13): Show a0001c0001t0001g0259 a0001c0001t0005g0018 a0001c0001t0005g0102 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0280 a0001c0001t0005g0290 a0001c0001t0015g0227 a0001c0001t0015g0228 a0001c0001t0015g0229 a0001c0001t0047g0140 a0001c0009t0005g0042 a0002c0003t0034g0179 a0004c0012t0005g0107 a0006c0008t0005g0030	19	374	0.0508	-12	c.900 others(27): Show c.900+676_900+687delATATATATATAT	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAN_chr15_88798436_88880353	88853753	GATACATA others(5): Show GATACATACATAC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02965.hp2 HG03579.hp2 HG01346.hp2 HG02965.hp2 HG03579.hp2	a0043 a0086 a0043 a0086	a0043c0033 a0086c0110 a0043c0033 a0086c0110	a0043c0033t0001 a0043c0033t0002 a0086c0110t0001 a0043c0033t0001 a0043c0033t0002 a0086c0110t0001	a0043c0033t0001g0157 a0043c0033t0002g0343 a0086c0110t0001g0190 a0043c0033t0001g0157 a0043c0033t0002g0343 a0086c0110t0001g0190	3	368	0.0082	-12	c.226 others(31): Show c.2267-1078_2267-1067delATACATACATAC	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACAP2_chr3_195269745_195448020	195304163	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	324	0.0031	-12	c.111 others(31): Show c.1117-2001_1117-1990delTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	13/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195311092	GTTTTTTT others(5): Show GTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	324	0.0031	-12	c.858 others(29): Show c.858-2267_858-2256delACAAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	10/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195351441	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01175.hp1 HG01884.hp1 others(34): Show HG00408.hp1 HG01175.hp1 HG01884.hp1 HG01884.hp2 HG02015.hp2 HG02074.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18948.hp1 NA18951.hp2 NA18983.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19085.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0033 a0001c0001t0034 a0001c0002t0004 a0001c0002t0015	a0001c0001t0001g0151 a0001c0001t0001g0169 a0001c0001t0001g0170 others(34): Show a0001c0001t0001g0151 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0279 a0001c0001t0002g0006 a0001c0001t0002g0119 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0003g0140 a0001c0001t0006g0092 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0313 a0001c0001t0010g0222 a0001c0001t0033g0261 a0001c0001t0034g0020 a0001c0002t0004g0030 a0001c0002t0004g0040 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0049 a0001c0002t0004g0052 a0001c0002t0004g0319 a0001c0002t0015g0038	37	324	0.1142	-12	c.286 others(29): Show c.286-6136_286-6125delACACACACACAC	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195390851	AAACATGT others(5): Show AAACATGTAAATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 NA18522.hp1 HG02647.hp2 HG02717.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0103 a0001c0004t0002g0104 a0001c0004t0002g0105 a0001c0004t0002g0103 a0001c0004t0002g0104 a0001c0004t0002g0105	3	324	0.0093	-12	c.111 others(29): Show c.111+1227_111+1238delCATTTACATGTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	2/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195398637	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02523.hp1 HG02273.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0248 a0001c0001t0003g0129 a0001c0001t0001g0248 a0001c0001t0003g0129	2	324	0.0062	-12	c.54- others(27): Show c.54-6502_54-6491delTTTATTTATTTA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195409879	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0207 a0001c0003t0026g0207	1	324	0.0031	-12	c.54- others(29): Show c.54-17744_54-17733delTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	1/22			chr3	TogoVar
ACAT1_chr11_108116567_108152603	108151631	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00733.hp2 others(14): Show HG00558.hp2 HG00639.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp2 HG01261.hp1 HG01515.hp1 HG02027.hp2 HG02738.hp1 HG03669.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp2 NA19057.hp1 NA19072.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0103 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0103 a0001c0001t0001g0144 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0002c0002t0002g0307	17	386	0.0440	-12	c.42 others(23): Show c.4242_*4253delAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACAT2_chr6_159757045_159784112	159778422	TTTAAAAA others(5): Show TTTAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp1 HG02886.hp2 others(5): Show HG02145.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0058 a0001c0005t0001g0081 a0001c0005t0001g0008 a0001c0005t0001g0058 a0001c0005t0001g0081	8	404	0.0198	-12	c.102 others(29): Show c.1023+143_1023+154delTTAAAAAAAAAA	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	8/8			chr6	TogoVar
ACBD5_chr10_27190214_27245797	27193114	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG01884.hp1 others(25): Show HG00597.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03831.hp2 NA18522.hp2 NA18981.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0020 a0001c0002t0001 a0001c0005t0002	a0001c0001t0001g0079 a0001c0001t0002g0082 a0001c0001t0002g0104 others(25): Show a0001c0001t0001g0079 a0001c0001t0002g0082 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0341 a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0359 a0001c0001t0015g0038 a0001c0001t0020g0212 a0001c0002t0001g0291 a0001c0005t0002g0120 a0001c0005t0002g0121 a0001c0005t0002g0122 a0001c0005t0002g0123	28	384	0.0729	-12	c.43 others(23): Show c.4304_*4315delACACACACACAC	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding		2099		chr10	TogoVar
ACBD5_chr10_27190214_27245797	27226449	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18965.hp2 NA18962.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0262 a0001c0002t0001g0247 a0001c0002t0001g0262	2	384	0.0052	-12	c.376 others(29): Show c.376-3009_376-2998delGTGTGTGTGTGT	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228809	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0210 a0001c0005t0002g0210	1	384	0.0026	-12	c.375 others(29): Show c.375+2927_375+2938delAAAAAATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228811	ATATATTT others(5): Show ATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03139.hp1 HG03195.hp1 others(1): Show HG02109.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0002 a0001c0001t0003 a0001c0005t0002	a0001c0001t0003g0150 a0001c0005t0002g0120 a0001c0005t0002g0193 others(1): Show a0001c0001t0003g0150 a0001c0005t0002g0120 a0001c0005t0002g0193 a0001c0005t0002g0196	4	384	0.0104	-12	c.375 others(29): Show c.375+2925_375+2936delAAAAAAAATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228813	ATATTTTT others(5): Show ATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 NA18991.hp1 others(1): Show HG00423.hp2 HG00597.hp1 NA18991.hp1 NA18992.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0124 a0003c0006t0004g0141 a0003c0006t0004g0142 others(1): Show a0003c0006t0004g0124 a0003c0006t0004g0141 a0003c0006t0004g0142 a0003c0006t0004g0143	4	384	0.0104	-12	c.375 others(29): Show c.375+2923_375+2934delAAAAAAAAAATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27233257	TCTTTACT others(5): Show TCTTTACTAAAGA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	384	0.0026	-12	c.303 others(29): Show c.303-1449_303-1438delTCTTTAGTAAAG	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	3/12			chr10	TogoVar
ACBD6_chr1_180283230_180507577	180363686	AAGCAGGA others(5): Show AAGCAGGAGCAGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG01123.hp1 others(20): Show HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG04115.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0002g0283 a0001c0001t0003g0277 a0001c0001t0003g0278	23	334	0.0689	-12	c.663 others(31): Show c.663+33818_663+33829delCCTGCTCCTGCT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180390542	AGTCATTG others(5): Show AGTCATTGGTAGC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	334	0.0030	-12	c.663 others(29): Show c.663+6962_663+6973delGCTACCAATGAC	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180419856	AGAGGTGG others(5): Show AGAGGTGGCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0277 a0001c0001t0003g0278	2	334	0.0060	-12	c.468 others(29): Show c.468-6397_468-6386delACCTGCCACCTC	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	4/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180433574	CTGTGTGT others(5): Show CTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01261.hp1 others(30): Show HG01074.hp1 HG01106.hp1 HG01261.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03710.hp1 NA18522.hp1 NA18945.hp1 NA18951.hp1 NA18970.hp1 NA18988.hp1 NA18991.hp1 NA18997.hp1 NA19001.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 others(30): Show a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0006g0002	33	334	0.0988	-12	c.385 others(29): Show c.385-3324_385-3313delCACACACACACA	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	3/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180493247	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01109.hp2 others(20): Show HG01069.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01358.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02630.hp2 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03834.hp2 NA20300.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 others(20): Show a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167	23	334	0.0689	-12	c.288 others(27): Show c.288-894_288-883delTTTTTTTTTTTT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	2/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180493267	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	334	0.0030	-12	c.288 others(27): Show c.288-914_288-903delGTTTTTTTTTTT	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	2/7			chr1	TogoVar
ACBD6_chr1_180283230_180507577	180502501	CTCCGGCT others(5): Show CTCCGGCTTCCCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	334	0.0030	-12	c.-24 others(21): Show c.-247_-236delAGGGAAGCCGGA	ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	1/8	236		chr1	TogoVar
ACBD7_chr10_15070475_15093776	15093036	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02818.hp1 HG02572.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0052 a0001c0001t0014g0052	2	426	0.0047	-12	c.-43 others(23): Show c.-4320_-4309delAAAAAAAAAAAA	ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding		4261		chr10	TogoVar
ACCSL_chr11_44042981_44064977	44049419	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	446	0.0022	-12	c.505 others(27): Show c.505-628_505-617delAAAAAAAAAAAA	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44064564	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00323.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0115 a0001c0001t0001g0039 a0001c0001t0001g0115	2	446	0.0045	-12	c.46 others(23): Show c.4645_*4656delTGTGTGTGTGTG	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding		4588		chr11	TogoVar

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