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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADAMTS2_chr5_179105853_179350461	179115676	A A	AAGGAGGA others(5): Show AAGGAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0003 a0011c0020t0003	a0011c0020t0003g0124 a0011c0020t0003g0124	1	276	0.0036	12	c.317 others(31): Show c.3179-1353_3179-1352insCCCTTTCCTCCT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	21/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179115693	G G	GGAAAGGG others(5): Show GGAAAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02970.hp1 HG02559.hp1 HG02630.hp1 HG02970.hp1	a0003 a0013 a0003 a0013	a0003c0105 a0003c0109 a0013c0080 a0003c0105 a0003c0109 a0013c0080	a0003c0105t0012 a0003c0109t0012 a0013c0080t0012 a0003c0105t0012 a0003c0109t0012 a0013c0080t0012	a0003c0105t0012g0209 a0003c0109t0012g0203 a0013c0080t0012g0192 a0003c0105t0012g0209 a0003c0109t0012g0203 a0013c0080t0012g0192	3	276	0.0109	12	c.317 others(31): Show c.3179-1381_3179-1370dupTCCCTCCCTTTC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	21/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179135109	C C	CTCCAGCT others(5): Show CTCCAGCTCCCGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0073 a0001c0014t0002g0073	1	276	0.0036	12	c.208 others(29): Show c.2085+799_2085+800insCCGGGAGCTGGA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	13/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179140799	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 NA19043.hp1 HG03017.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0069 a0005c0013 a0001c0069 a0005c0013	a0001c0069t0002 a0005c0013t0003 a0001c0069t0002 a0005c0013t0003	a0001c0069t0002g0046 a0005c0013t0003g0087 a0001c0069t0002g0046 a0005c0013t0003g0087	2	276	0.0073	12	c.163 others(29): Show c.1630-776_1630-765dupAAAAAAAAAAAA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	10/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179150121	A A	AGCTCCTG others(5): Show AGCTCCTGTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(21): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00639.hp2 HG00673.hp2 HG01074.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01934.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02129.hp2 HG02735.hp1 HG03239.hp2 HG03654.hp2 NA18969.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA19005.hp2 NA19066.hp2 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0025	a0001c0018 a0001c0022 a0002c0007 others(6): Show a0001c0018 a0001c0022 a0002c0007 a0002c0023 a0003c0096 a0004c0016 a0004c0101 a0006c0044 a0025c0091	a0001c0018t0002 a0001c0022t0002 a0002c0007t0002 others(7): Show a0001c0018t0002 a0001c0022t0002 a0002c0007t0002 a0002c0023t0002 a0003c0096t0002 a0004c0016t0002 a0004c0016t0015 a0004c0101t0002 a0006c0044t0003 a0025c0091t0002	a0001c0018t0002g0161 a0001c0018t0002g0178 a0001c0018t0002g0181 others(21): Show a0001c0018t0002g0161 a0001c0018t0002g0178 a0001c0018t0002g0181 a0001c0022t0002g0028 a0001c0022t0002g0042 a0001c0022t0002g0102 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0029 a0002c0007t0002g0031 a0002c0007t0002g0034 a0002c0007t0002g0038 a0002c0007t0002g0082 a0002c0007t0002g0097 a0002c0023t0002g0151 a0002c0023t0002g0159 a0003c0096t0002g0248 a0004c0016t0002g0220 a0004c0016t0002g0230 a0004c0016t0002g0259 a0004c0016t0015g0252 a0004c0101t0002g0223 a0006c0044t0003g0165 a0025c0091t0002g0218	24	276	0.0870	12	c.162 others(31): Show c.1629+2020_1629+2021insAGGAACAGGAGC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	10/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179173212	T T	TTAATAAT others(5): Show TTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01884.hp2 HG02258.hp2 others(9): Show HG01167.hp2 HG01884.hp2 HG02258.hp2 HG02300.hp2 HG02615.hp2 HG02647.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0012 a0015 a0019 a0032	a0001c0001 a0001c0004 a0001c0014 others(6): Show a0001c0001 a0001c0004 a0001c0014 a0002c0002 a0003c0003 a0012c0055 a0015c0086 a0019c0083 a0032c0045	a0001c0001t0001 a0001c0004t0001 a0001c0014t0002 others(6): Show a0001c0001t0001 a0001c0004t0001 a0001c0014t0002 a0002c0002t0001 a0003c0003t0001 a0012c0055t0001 a0015c0086t0004 a0019c0083t0001 a0032c0045t0003	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0004t0001g0146 others(9): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0004t0001g0146 a0001c0014t0002g0073 a0002c0002t0001g0008 a0002c0002t0001g0059 a0002c0002t0001g0113 a0003c0003t0001g0274 a0012c0055t0001g0019 a0015c0086t0004g0201 a0019c0083t0001g0199 a0032c0045t0003g0171	12	276	0.0435	12	c.975 others(29): Show c.975+7848_975+7859dupTTATTATTATTA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	5/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179189510	G G	GCTTTTTT others(5): Show GCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0007 a0002c0012t0007	a0002c0012t0007g0120 a0002c0012t0007g0120	1	276	0.0036	12	c.892 others(29): Show c.892-8356_892-8355insAAAAAAAAAAAG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179205757	G G	GTTATTAT others(5): Show GTTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00673.hp1 others(25): Show HG00408.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01261.hp2 HG01891.hp2 HG02165.hp2 HG02451.hp2 HG02735.hp2 HG02809.hp1 HG02970.hp1 HG03195.hp2 HG03669.hp2 HG03710.hp1 NA18522.hp2 NA18954.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA18998.hp1 NA19043.hp1 NA20905.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013 a0021 a0024 a0030	a0001c0001 a0001c0004 a0001c0014 others(19): Show a0001c0001 a0001c0004 a0001c0014 a0001c0048 a0001c0064 a0001c0069 a0002c0002 a0002c0008 a0002c0023 a0002c0029 a0002c0031 a0002c0060 a0002c0063 a0003c0003 a0003c0107 a0004c0102 a0006c0056 a0007c0005 a0013c0080 a0021c0088 a0024c0092 a0030c0085	a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0024 a0001c0004t0006 a0001c0014t0002 a0001c0048t0004 a0001c0064t0001 a0001c0069t0002 a0002c0002t0001 a0002c0008t0001 a0002c0023t0002 a0002c0029t0001 a0002c0031t0001 a0002c0060t0001 a0002c0063t0004 a0003c0003t0001 a0003c0107t0011 a0004c0102t0001 a0006c0056t0003 a0007c0005t0003 a0013c0080t0012 a0021c0088t0003 a0024c0092t0004 a0030c0085t0002	a0001c0001t0001g0014 a0001c0001t0004g0026 a0001c0001t0004g0081 others(25): Show a0001c0001t0001g0014 a0001c0001t0004g0026 a0001c0001t0004g0081 a0001c0001t0004g0103 a0001c0001t0024g0055 a0001c0004t0006g0154 a0001c0014t0002g0131 a0001c0048t0004g0195 a0001c0064t0001g0057 a0001c0069t0002g0046 a0002c0002t0001g0001 a0002c0002t0001g0030 a0002c0002t0001g0125 a0002c0008t0001g0186 a0002c0023t0002g0159 a0002c0029t0001g0132 a0002c0031t0001g0061 a0002c0060t0001g0091 a0002c0063t0004g0058 a0003c0003t0001g0225 a0003c0107t0011g0212 a0004c0102t0001g0251 a0006c0056t0003g0106 a0007c0005t0003g0273 a0013c0080t0012g0192 a0021c0088t0003g0214 a0024c0092t0004g0216 a0030c0085t0002g0202	28	276	0.1015	12	c.891 others(29): Show c.891+1744_891+1755dupTAATAATAATAA		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	4/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179223538	A A	ACACGAAT others(5): Show ACACGAATGCACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02717.hp2 others(3): Show HG01891.hp1 HG02145.hp2 HG02717.hp2 HG02895.hp2 HG03225.hp1 HG03453.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0046 a0001c0065 a0002c0002 others(3): Show a0001c0046 a0001c0065 a0002c0002 a0002c0031 a0003c0097 a0004c0039	a0001c0046t0002 a0001c0065t0002 a0002c0002t0002 others(3): Show a0001c0046t0002 a0001c0065t0002 a0002c0002t0002 a0002c0031t0004 a0003c0097t0021 a0004c0039t0007	a0001c0046t0002g0194 a0001c0065t0002g0118 a0002c0002t0002g0143 others(3): Show a0001c0046t0002g0194 a0001c0065t0002g0118 a0002c0002t0002g0143 a0002c0031t0004g0051 a0003c0097t0021g0227 a0004c0039t0007g0208	6	276	0.0217	12	c.689 others(31): Show c.689-15824_689-15823insAGTGCATTCGTG		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179299530	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(81): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01257.hp2 HG01433.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02486.hp1 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18957.hp2 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19084.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0022 a0029 a0032 a0035	a0001c0001 a0001c0004 a0001c0018 others(40): Show a0001c0001 a0001c0004 a0001c0018 a0001c0022 a0001c0035 a0001c0050 a0001c0068 a0001c0072 a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0017 a0002c0023 a0002c0043 a0002c0057 a0002c0059 a0003c0003 a0003c0096 a0003c0097 a0003c0106 a0004c0006 a0004c0016 a0004c0110 a0005c0013 a0005c0015 a0005c0019 a0006c0009 a0006c0011 a0006c0062 a0007c0005 a0008c0010 a0009c0021 a0010c0036 a0011c0020 a0012c0040 a0012c0054 a0013c0037 a0016c0025 a0022c0089 a0029c0104 a0032c0045 a0035c0071	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0018t0002 a0001c0022t0002 a0001c0035t0004 a0001c0050t0001 a0001c0068t0001 a0001c0072t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0007t0002 a0002c0008t0001 a0002c0012t0001 a0002c0017t0001 a0002c0017t0004 a0002c0023t0002 a0002c0043t0014 a0002c0057t0004 a0002c0059t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0096t0002 a0003c0097t0021 a0003c0106t0002 a0004c0006t0001 a0004c0006t0004 a0004c0016t0002 a0004c0110t0002 a0005c0013t0003 a0005c0015t0005 a0005c0019t0003 a0006c0009t0003 a0006c0011t0003 a0006c0062t0003 a0007c0005t0003 a0007c0005t0009 a0008c0010t0003 a0009c0021t0003 a0010c0036t0004 a0011c0020t0003 a0012c0040t0001 a0012c0054t0001 a0013c0037t0001 a0016c0025t0001 a0022c0089t0006 a0029c0104t0027 a0032c0045t0003 a0035c0071t0005	a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0069 others(81): Show a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0002g0036 a0001c0001t0004g0026 a0001c0001t0004g0033 a0001c0001t0004g0081 a0001c0001t0004g0103 a0001c0004t0002g0162 a0001c0004t0002g0163 a0001c0004t0004g0004 a0001c0004t0006g0154 a0001c0018t0002g0161 a0001c0022t0002g0042 a0001c0022t0002g0102 a0001c0035t0004g0022 a0001c0050t0001g0177 a0001c0068t0001g0023 a0001c0072t0002g0108 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0030 a0002c0002t0001g0052 a0002c0002t0001g0086 a0002c0002t0001g0114 a0002c0002t0001g0129 a0002c0002t0001g0133 a0002c0002t0004g0123 a0002c0002t0006g0090 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0029 a0002c0007t0002g0031 a0002c0007t0002g0034 a0002c0007t0002g0038 a0002c0008t0001g0166 a0002c0008t0001g0186 a0002c0012t0001g0060 a0002c0017t0001g0173 a0002c0017t0004g0158 a0002c0023t0002g0151 a0002c0023t0002g0159 a0002c0043t0014g0193 a0002c0057t0004g0032 a0002c0059t0001g0002 a0003c0003t0001g0224 a0003c0003t0001g0246 a0003c0003t0001g0261 a0003c0003t0002g0269 a0003c0003t0004g0267 a0003c0096t0002g0248 a0003c0097t0021g0227 a0003c0106t0002g0210 a0004c0006t0001g0249 a0004c0006t0004g0228 a0004c0016t0002g0230 a0004c0110t0002g0205 a0005c0013t0003g0087 a0005c0015t0005g0076 a0005c0019t0003g0180 a0006c0009t0003g0027 a0006c0009t0003g0037 a0006c0009t0003g0079 a0006c0011t0003g0153 a0006c0011t0003g0185 a0006c0062t0003g0104 a0007c0005t0003g0222 a0007c0005t0003g0247 a0007c0005t0003g0264 a0007c0005t0009g0242 a0008c0010t0003g0241 a0008c0010t0003g0243 a0009c0021t0003g0016 a0010c0036t0004g0063 a0011c0020t0003g0047 a0011c0020t0003g0096 a0012c0040t0001g0169 a0012c0054t0001g0045 a0013c0037t0001g0130 a0016c0025t0001g0127 a0022c0089t0006g0217 a0029c0104t0027g0221 a0032c0045t0003g0171 a0035c0071t0005g0044	84	276	0.3044	12	c.535 others(31): Show c.535-26478_535-26467dupGTGTGTGTGTGT		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21						chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179345249	A A	AGCGGCAG others(5): Show AGCGGCAGGAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02886.hp2 HG02886.hp2	a0020 a0020	a0020c0113 a0020c0113	a0020c0113t0029 a0020c0113t0029	a0020c0113t0029g0276 a0020c0113t0029g0276	1	276	0.0036	12	c.79_ others(17): Show c.79_80insCGCTCCTGCCGC	p.Pro others(23): Show p.Pro26_Leu27insProLeuLeuPro	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	1/22	212/6783	79/3636	27/1211			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72288923	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02451.hp2 HG03540.hp1 others(2): Show HG01496.hp2 HG02451.hp2 HG03540.hp1 NA19060.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0017t0001	a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0002g0068 others(2): Show a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0002g0068 a0001c0001t0007g0082 a0001c0017t0001g0098	5	182	0.0275	12	c.293 others(27): Show c.2932-67_2932-56dupGTGTGTGTGTGT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	20/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72379810	A A	AAGTAGTG others(5): Show AAGTAGTGCATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0025 a0001c0001t0001g0075 a0001c0001t0002g0025	2	182	0.0110	12	c.661 others(31): Show c.661+34993_661+35004dupATATGCACTACT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72470361	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02723.hp1 HG03471.hp1 others(2): Show HG02027.hp1 HG02723.hp1 HG03471.hp1 HG03927.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0019 a0001c0001t0030 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0030 a0002c0002t0001 a0002c0002t0033	a0001c0001t0001g0170 a0001c0001t0019g0033 a0001c0001t0030g0181 others(2): Show a0001c0001t0001g0170 a0001c0001t0019g0033 a0001c0001t0030g0181 a0002c0002t0001g0096 a0002c0002t0033g0182	5	182	0.0275	12	c.505 others(31): Show c.505-55402_505-55391dupTATATATATATA		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550008	A A	AAGGAGAA others(5): Show AAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	182	0.0055	12	c.98- others(27): Show c.98-1125_98-1124insCCTCCTTCTCCT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550014	A A	AAGGAGAA others(5): Show AAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0180	1	182	0.0055	12	c.98- others(27): Show c.98-1131_98-1130insCCTCCTTCTCCT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550020	A A	AAGGAGAA others(5): Show AAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02970.hp2 HG01243.hp2 HG02970.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0003c0008t0025 a0001c0001t0002 a0003c0008t0025	a0001c0001t0002g0027 a0003c0008t0025g0028 a0001c0001t0002g0027 a0003c0008t0025g0028	2	182	0.0110	12	c.98- others(27): Show c.98-1137_98-1136insCCTCCTTCTCCT		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21						chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550114	A A	AGAAGAAG others(5): Show AGAAGAAGAGGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp1 HG03139.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0020 a0002c0002 a0002c0020	a0002c0002t0005 a0002c0020t0009 a0002c0002t0005 a0002c0020t0009	a0002c0002t0005g0015 a0002c0020t0009g0129 a0002c0002t0005g0015 a0002c0020t0009g0129	2	182	0.0110	12	c.98- others(27): Show c.98-1231_98-1230insCTCCTCTTCTTC		ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21						chr4	TogoVar
ADAMTS4_chr1_161179302_161204054	161188883	A A	AATATATA others(5): Show AATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02132.hp2 HG02155.hp2 others(7): Show HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02895.hp1 HG02965.hp1 HG03486.hp2 HG03516.hp2 NA18943.hp1 NA18951.hp2 NA18957.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0149 a0001c0001t0150 a0001c0002t0169 others(6): Show a0001c0001t0149 a0001c0001t0150 a0001c0002t0169 a0001c0002t0207 a0003c0004t0032 a0003c0004t0064 a0003c0004t0069 a0003c0004t0070 a0003c0004t0072	a0001c0001t0149g0111 a0001c0001t0150g0112 a0001c0002t0169g0246 others(6): Show a0001c0001t0149g0111 a0001c0001t0150g0112 a0001c0002t0169g0246 a0001c0002t0207g0200 a0003c0004t0032g0046 a0003c0004t0064g0233 a0003c0004t0069g0215 a0003c0004t0070g0216 a0003c0004t0072g0235	10	374	0.0267	12	c.22 others(23): Show c.2243_*2254dupATATATATATAT		ADAMTS4	ENSG00000158859.10	transcript	ENST00000367996.6	protein_coding	9/9				2254		chr1	TogoVar
ADAMTS5_chr21_26912922_26972088	26949136	G G	GATATATA others(5): Show GATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0182 a0001c0001t0034g0182	1	398	0.0025	12	c.123 others(31): Show c.1237+5591_1238-5590dupATATATATATAT		ADAMTS5	ENSG00000154736.6	transcript	ENST00000284987.6	protein_coding	2/7						chr21	TogoVar
ADAMTS5_chr21_26912922_26972088	26957447	T T	TGATAGAT others(5): Show TGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19062.hp1 HG03209.hp2 NA19062.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0094 a0001c0001t0001 a0004c0004t0094	a0001c0001t0001g0347 a0004c0004t0094g0094 a0001c0001t0001g0347 a0004c0004t0094g0094	2	398	0.0050	12	c.110 others(31): Show c.1105-2588_1105-2577dupTATCTATCTATC		ADAMTS5	ENSG00000154736.6	transcript	ENST00000284987.6	protein_coding	1/7						chr21	TogoVar
ADAMTS6_chr5_65143738_65486920	65196522	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	204	0.0049	12	c.270 others(29): Show c.2705+488_2705+499dupTTTTTTTTTTTT		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	21/24						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65216782	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01106.hp2 others(14): Show HG00735.hp2 HG01081.hp1 HG01106.hp2 HG02071.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02922.hp2 HG02970.hp1 NA18942.hp1 NA18962.hp2 NA19011.hp2 NA19012.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0007 a0001c0001 a0001c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0003t0001 a0006c0007t0002	a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(14): Show a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0002g0170 a0001c0001t0002g0173 a0001c0001t0005g0201 a0001c0001t0017g0204 a0001c0003t0001g0052 a0006c0007t0002g0106	17	204	0.0833	12	c.227 others(31): Show c.2273-1307_2273-1296dupGTGTGTGTGTGT		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	18/24						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65275353	G G	GAGAAAGA others(5): Show GAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19081.hp2 NA19070.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0132 a0001c0001t0001g0150	2	204	0.0098	12	c.151 others(31): Show c.1513-1918_1513-1907dupTTCTTTCTTTCT		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	11/24						chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65319739	G G	GGGAAGGA others(5): Show GGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01993.hp2 HG02027.hp1 others(10): Show HG01081.hp2 HG01993.hp2 HG02027.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 NA18953.hp2 NA18971.hp1 NA18973.hp1 NA18984.hp2 NA19001.hp1 NA19058.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0095 others(10): Show a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0136 a0001c0001t0003g0037 a0001c0001t0003g0041 a0001c0001t0003g0089 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0154 a0001c0001t0012g0098 a0001c0003t0001g0040	13	204	0.0637	12	c.122 others(31): Show c.1223+9627_1223+9638dupTTCCTTCCTTCC		ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	9/24						chr5	TogoVar
ADAMTS7_chr15_78754206_78816464	78780679	C C	CCCCCCAC others(5): Show CCCCCCACCACCT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0001 a0015c0034t0001	a0015c0034t0001g0065 a0015c0034t0001g0065	1	380	0.0026	12	c.132 others(31): Show c.1323-3103_1323-3092dupAGGTGGTGGGGG		ADAMTS7	ENSG00000136378.15	transcript	ENST00000388820.5	protein_coding	8/23						chr15	TogoVar
ADAMTS9_chr3_64510654_64693000	64517416	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp1 HG03453.hp1 others(1): Show HG02723.hp1 HG03195.hp1 HG03453.hp1 NA20129.hp1	a0003 a0012 a0003 a0012	a0003c0017 a0012c0018 a0003c0017 a0012c0018	a0003c0017t0006 a0012c0018t0006 a0003c0017t0006 a0012c0018t0006	a0003c0017t0006g0027 a0003c0017t0006g0028 a0012c0018t0006g0173 others(1): Show a0003c0017t0006g0027 a0003c0017t0006g0028 a0012c0018t0006g0173 a0012c0018t0006g0243	4	286	0.0140	12	c.6- others(25): Show c.6-307_*6-296dupAAAAAAAAAAAA		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	39/39						chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64540798	C C	CTTCATTC others(5): Show CTTCATTCATTCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0059 a0003c0003t0001g0059	1	286	0.0035	12	c.552 others(29): Show c.5521+285_5521+296dupTGAATGAATGAA		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	36/39						chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64556714	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp2 others(24): Show HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01952.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0011 a0014 a0030	a0001c0001 a0001c0007 a0001c0020 others(7): Show a0001c0001 a0001c0007 a0001c0020 a0003c0003 a0003c0024 a0009c0028 a0011c0053 a0014c0041 a0014c0054 a0030c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0007t0002 a0001c0020t0002 a0003c0003t0001 a0003c0003t0007 a0003c0024t0001 a0009c0028t0007 a0011c0053t0002 a0014c0041t0001 a0014c0054t0001 a0030c0046t0002	a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0102 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0183 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0001g0251 a0001c0001t0002g0065 a0001c0001t0002g0118 a0001c0001t0002g0172 a0001c0001t0002g0224 a0001c0001t0002g0253 a0001c0001t0007g0278 a0001c0001t0016g0063 a0001c0007t0002g0254 a0001c0020t0002g0258 a0003c0003t0001g0059 a0003c0003t0007g0037 a0003c0003t0007g0038 a0003c0024t0001g0042 a0009c0028t0007g0275 a0011c0053t0002g0272 a0014c0041t0001g0280 a0014c0054t0001g0283 a0030c0046t0002g0252	27	286	0.0944	12	c.469 others(31): Show c.4698+4852_4698+4863dupGGAAGGAAGGAA		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	30/39						chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64643445	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp2 others(13): Show HG00099.hp1 HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01978.hp2 HG02109.hp2 HG02300.hp1 HG02647.hp2 HG02723.hp2 HG03041.hp1 HG03195.hp2 HG03486.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0011	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0002c0002 a0004c0005 a0011c0053	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0006t0001 a0001c0007t0001 a0002c0002t0001 a0004c0005t0001 a0011c0053t0002	a0001c0001t0001g0101 a0001c0001t0001g0164 a0001c0001t0001g0222 others(13): Show a0001c0001t0001g0101 a0001c0001t0001g0164 a0001c0001t0001g0222 a0001c0001t0001g0251 a0001c0001t0002g0099 a0001c0001t0002g0224 a0001c0001t0019g0119 a0001c0006t0001g0207 a0001c0006t0001g0208 a0001c0007t0001g0017 a0002c0002t0001g0064 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0230 a0004c0005t0001g0032 a0011c0053t0002g0272	16	286	0.0559	12	c.171 others(31): Show c.1711-1464_1711-1453dupAAAAAAAAAAAA		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding	11/39						chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64689107	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 NA18522.hp2 HG03098.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0025 a0001c0007 a0003c0025	a0001c0007t0002 a0003c0025t0001 a0001c0007t0002 a0003c0025t0001	a0001c0007t0002g0062 a0003c0025t0001g0026 a0001c0007t0002g0062 a0003c0025t0001g0026	2	286	0.0070	12	c.-14 others(23): Show c.-1451_-1450insACACACACACAC		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding					1108		chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64692855	T T	TACACACA others(5): Show TACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02559.hp1 HG02615.hp1 others(13): Show HG01081.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp2 NA18986.hp2 NA19030.hp2 NA19058.hp2 NA19082.hp1 NA19084.hp2 NA19240.hp1 NA20752.hp1	a0001 a0007 a0012 others(1): Show a0001 a0007 a0012 a0014	a0001c0001 a0001c0004 a0001c0006 others(6): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0001c0031 a0001c0037 a0007c0011 a0012c0018 a0014c0054	a0001c0001t0001 a0001c0004t0001 a0001c0006t0010 others(7): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0010 a0001c0006t0011 a0001c0013t0011 a0001c0031t0008 a0001c0037t0008 a0007c0011t0004 a0012c0018t0006 a0014c0054t0001	a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0159 others(13): Show a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0004t0001g0238 a0001c0006t0010g0003 a0001c0006t0010g0007 a0001c0006t0011g0008 a0001c0013t0011g0005 a0001c0031t0008g0004 a0001c0037t0008g0006 a0007c0011t0004g0156 a0007c0011t0004g0157 a0012c0018t0006g0243 a0014c0054t0001g0283	16	286	0.0559	12	c.-51 others(23): Show c.-5199_-5198insGTGTGTGTGTGT		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding					4856		chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64692888	A A	ACACACAC others(5): Show ACACACACACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01123.hp2 others(7): Show HG00438.hp2 HG00544.hp2 HG01123.hp2 HG03041.hp2 HG03491.hp1 HG04115.hp1 NA18940.hp1 NA18940.hp2 NA18960.hp2 NA19010.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0041 a0001c0001 a0014c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0014c0041t0001	a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0143 others(7): Show a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0002g0100 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0131 a0001c0001t0002g0282 a0001c0001t0021g0284 a0014c0041t0001g0280	10	286	0.0350	12	c.-52 others(23): Show c.-5232_-5231insGGTGTGTGTGTG		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding					4889		chr3	TogoVar
ADAMTS9_chr3_64510654_64693000	64692888	A A	ACACACAC others(5): Show ACACACACACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18955.hp1 NA19066.hp2 HG02135.hp2 NA18955.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0002 a0001c0014 a0002c0002	a0001c0014t0001 a0002c0002t0001 a0002c0002t0003 a0001c0014t0001 a0002c0002t0001 a0002c0002t0003	a0001c0014t0001g0091 a0002c0002t0001g0121 a0002c0002t0003g0122 a0001c0014t0001g0091 a0002c0002t0001g0121 a0002c0002t0003g0122	3	286	0.0105	12	c.-52 others(23): Show c.-5232_-5231insGGGGTGTGTGTG		ADAMTS9	ENSG00000163638.13	transcript	ENST00000498707.5	protein_coding					4889		chr3	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503421	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0020 a0001c0005t0004g0020	1	218	0.0046	12	c.64- others(27): Show c.64-1399_64-1388dupTATATATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18503980	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04115.hp1 HG04199.hp1 others(1): Show HG03654.hp1 HG04115.hp1 HG04199.hp1 NA19074.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0001 a0004c0015 a0006c0014 a0002c0001 a0004c0015 a0006c0014	a0002c0001t0004 a0004c0015t0025 a0006c0014t0003 a0002c0001t0004 a0004c0015t0025 a0006c0014t0003	a0002c0001t0004g0036 a0002c0001t0004g0038 a0004c0015t0025g0037 others(1): Show a0002c0001t0004g0036 a0002c0001t0004g0038 a0004c0015t0025g0037 a0006c0014t0003g0144	4	218	0.0184	12	c.64- others(25): Show c.64-834_64-823dupTGTGTGTGTGTG		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18547633	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0017 a0001c0007t0004g0017	1	218	0.0046	12	c.237 others(31): Show c.237+14351_237+14362dupAAAAAAAAAAAA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	3/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18588884	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0010 a0002c0001t0009g0010	1	218	0.0046	12	c.474 others(31): Show c.474+14626_474+14637dupTATATATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18621556	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0133 a0001c0008t0004g0133	1	218	0.0046	12	c.475 others(27): Show c.475-654_475-643dupCACACACACACA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18626839	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0212 a0001c0003t0013g0212	1	218	0.0046	12	c.601 others(29): Show c.601+4488_601+4499dupTTCTTTCTTTCT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	5/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18655806	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	218	0.0046	12	c.835 others(29): Show c.835-1813_835-1802dupAAAAAAAAAAAA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688677	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0046 a0001c0006t0005g0046	1	218	0.0046	12	c.157 others(31): Show c.1574+3878_1574+3879insTATATATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688679	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0129 a0001c0006t0003g0129	1	218	0.0046	12	c.157 others(31): Show c.1574+3880_1574+3881insTATATATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688689	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp2 NA18971.hp1 NA18971.hp2	a0002 a0003 a0002 a0003	a0002c0016 a0003c0019 a0002c0016 a0003c0019	a0002c0016t0006 a0003c0019t0001 a0002c0016t0006 a0003c0019t0001	a0002c0016t0006g0193 a0003c0019t0001g0135 a0002c0016t0006g0193 a0003c0019t0001g0135	2	218	0.0092	12	c.157 others(31): Show c.1574+3890_1574+3891insAAAAAATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18696865	A A	ATATTATT others(5): Show ATATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01074.hp1 HG01109.hp2 others(32): Show HG00544.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG02109.hp2 HG02300.hp2 HG02451.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18968.hp2 NA19062.hp2 NA19074.hp2 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0008 a0013 a0018 a0022 a0028 a0029	a0001c0002 a0001c0003 a0001c0005 others(18): Show a0001c0002 a0001c0003 a0001c0005 a0001c0026 a0001c0039 a0001c0054 a0001c0070 a0002c0001 a0002c0004 a0002c0053 a0003c0020 a0005c0013 a0005c0059 a0005c0060 a0008c0017 a0008c0030 a0013c0072 a0018c0066 a0022c0041 a0028c0082 a0029c0081	a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 others(30): Show a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0005t0003 a0001c0026t0003 a0001c0039t0001 a0001c0054t0004 a0001c0070t0002 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0007 a0002c0001t0009 a0002c0004t0003 a0002c0004t0006 a0002c0004t0008 a0002c0004t0009 a0002c0004t0022 a0002c0053t0003 a0003c0020t0001 a0005c0013t0019 a0005c0059t0013 a0005c0060t0001 a0008c0017t0002 a0008c0017t0004 a0008c0030t0003 a0013c0072t0002 a0018c0066t0001 a0022c0041t0033 a0028c0082t0004 a0029c0081t0003	a0001c0002t0003g0156 a0001c0002t0004g0045 a0001c0003t0001g0181 others(32): Show a0001c0002t0003g0156 a0001c0002t0004g0045 a0001c0003t0001g0181 a0001c0003t0002g0126 a0001c0005t0002g0149 a0001c0005t0003g0029 a0001c0026t0003g0103 a0001c0039t0001g0206 a0001c0054t0004g0119 a0001c0070t0002g0152 a0002c0001t0001g0185 a0002c0001t0003g0178 a0002c0001t0003g0192 a0002c0001t0004g0038 a0002c0001t0007g0208 a0002c0001t0009g0010 a0002c0004t0003g0043 a0002c0004t0006g0082 a0002c0004t0006g0113 a0002c0004t0008g0091 a0002c0004t0009g0098 a0002c0004t0022g0112 a0002c0053t0003g0120 a0003c0020t0001g0205 a0005c0013t0019g0158 a0005c0059t0013g0019 a0005c0060t0001g0048 a0008c0017t0002g0042 a0008c0017t0004g0157 a0008c0030t0003g0012 a0013c0072t0002g0040 a0018c0066t0001g0053 a0022c0041t0033g0013 a0028c0082t0004g0003 a0029c0081t0003g0002	35	218	0.1606	12	c.157 others(31): Show c.1575-9862_1575-9851dupATTATTATTATT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18703701	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00639.hp1 others(5): Show HG00544.hp1 HG00621.hp1 HG00639.hp1 HG01255.hp1 HG01255.hp2 HG01978.hp1 HG02717.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0021	a0001c0007 a0001c0010 a0001c0049 others(4): Show a0001c0007 a0001c0010 a0001c0049 a0001c0057 a0003c0011 a0004c0015 a0021c0052	a0001c0007t0001 a0001c0010t0001 a0001c0010t0002 others(5): Show a0001c0007t0001 a0001c0010t0001 a0001c0010t0002 a0001c0049t0001 a0001c0057t0002 a0003c0011t0001 a0004c0015t0004 a0021c0052t0002	a0001c0007t0001g0188 a0001c0010t0001g0093 a0001c0010t0002g0067 others(5): Show a0001c0007t0001g0188 a0001c0010t0001g0093 a0001c0010t0002g0067 a0001c0049t0001g0148 a0001c0057t0002g0001 a0003c0011t0001g0114 a0004c0015t0004g0138 a0021c0052t0002g0139	8	218	0.0367	12	c.157 others(31): Show c.1575-3023_1575-3012dupATATATATATAT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18735747	T T	TTCTTTTC others(5): Show TTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp1 HG02451.hp2 others(1): Show HG01433.hp1 HG02109.hp1 HG02451.hp2 NA19240.hp2	a0001 a0002 a0028 a0001 a0002 a0028	a0001c0054 a0002c0045 a0002c0053 others(1): Show a0001c0054 a0002c0045 a0002c0053 a0028c0082	a0001c0054t0004 a0002c0045t0007 a0002c0053t0003 others(1): Show a0001c0054t0004 a0002c0045t0007 a0002c0053t0003 a0028c0082t0004	a0001c0054t0004g0119 a0002c0045t0007g0014 a0002c0053t0003g0120 others(1): Show a0001c0054t0004g0119 a0002c0045t0007g0014 a0002c0053t0003g0120 a0028c0082t0004g0003	4	218	0.0184	12	c.200 others(33): Show c.2006+14082_2006+14083insTCTTTTCTTTTC		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/28						chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18739899	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03516.hp2 HG03654.hp1 others(1): Show HG02074.hp2 HG03516.hp2 HG03654.hp1 HG03927.hp1	a0002 a0004 a0022 a0002 a0004 a0022	a0002c0001 a0002c0016 a0004c0015 others(1): Show a0002c0001 a0002c0016 a0004c0015 a0022c0041	a0002c0001t0001 a0002c0016t0002 a0004c0015t0025 others(1): Show a0002c0001t0001 a0002c0016t0002 a0004c0015t0025 a0022c0041t0033	a0002c0001t0001g0185 a0002c0016t0002g0151 a0004c0015t0025g0037 others(1): Show a0002c0001t0001g0185 a0002c0016t0002g0151 a0004c0015t0025g0037 a0022c0041t0033g0013	4	218	0.0184	12	c.200 others(33): Show c.2007-13377_2007-13366dupGTGTGTGTGTGT		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18752090	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	218	0.0046	12	c.200 others(31): Show c.2007-1190_2007-1179dupAAAAAAAAAAAA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	15/28					INFO_REALIGN_3_PRIME	chr9	TogoVar
ADAMTSL1_chr9_18469153_18915950	18756076	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp1 NA19062.hp1 others(1): Show HG00738.hp2 HG01255.hp1 NA19062.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0010 a0002c0047 a0001c0003 a0001c0010 a0002c0047	a0001c0003t0003 a0001c0010t0001 a0001c0010t0002 others(1): Show a0001c0003t0003 a0001c0010t0001 a0001c0010t0002 a0002c0047t0026	a0001c0003t0003g0015 a0001c0010t0001g0078 a0001c0010t0002g0067 others(1): Show a0001c0003t0003g0015 a0001c0010t0001g0078 a0001c0010t0002g0067 a0002c0047t0026g0115	4	218	0.0184	12	c.221 others(31): Show c.2217+2604_2217+2615dupTATATATATATA		ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	16/28					INFO_REALIGN_3_PRIME	chr9	TogoVar

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