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 per page.

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
CNTN5_chr11_99015949_100363885	99338918	A A	AGATATAT others(30): Show AGATATATATATATATATATATATATATATATATCTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	66	0.0152	37	c.-71 others(56): Show c.-71+13463_-71+13464insATATCTGTGATATATATATATATATA TATATATATAT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1311111	T T	TTTTATAT others(30): Show TTTTATATATACATAGGTGTATGTATATATAAAATGTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03195.hp1 HG03225.hp2 others(1): Show HG02257.hp2 HG03195.hp1 HG03225.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0001c0021	a0001c0002t0008 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0002t0008 a0001c0003t0001 a0001c0006t0001 a0001c0021t0001	a0001c0002t0008g0221 a0001c0003t0001g0177 a0001c0006t0001g0111 others(1): Show a0001c0002t0008g0221 a0001c0003t0001g0177 a0001c0006t0001g0111 a0001c0021t0001g0231	4	232	0.0172	37	c.762 others(56): Show c.762-10517_762-10481dupGTATATATAAAATGTCTTTATATATA CATAGGTGTAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0002t0001g0007 a0001c0002t0002g0013	2	40	0.0500	37	c.98- others(54): Show c.98-52381_98-52380insATATATATATATATATATATTTTTTTTT TTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(30): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	40	0.0250	37	c.98- others(54): Show c.98-52381_98-52380insATATATATATATATATTTTTTTTTTTTT TTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0210 a0007c0013t0002g0210	1	274	0.0037	37	c.133 others(56): Show c.1334-1182_1334-1181insAAAAAAAAAAAAAAATATATATATAT ATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COG2_chr1_230637481_230698982	230653525	T T	TTTGATTC others(30): Show TTTGATTCTACTAAAGAATCAAATTCTACTAGCCAGAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0275 a0003c0004t0001g0275	1	406	0.0025	37	c.73- others(52): Show c.73-5917_73-5881dupATTCTACTAGCCAGAATTGATTCTACTAAA GAATCAA	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG2_chr1_230637481_230698982	230653525	T T	TTTGATTC others(30): Show TTTGATTCTACTAAAGAATCAAATTTTACTAGCCAGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0006 others(20): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0002c0003 a0002c0005 a0002c0023 a0003c0004 a0003c0008 a0003c0015 a0004c0007 a0005c0016 a0005c0017 a0007c0022 a0008c0011 a0011c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0004 a0001c0021t0006 a0002c0003t0001 a0002c0005t0001 a0002c0023t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0008t0001 a0003c0008t0003 a0003c0015t0001 a0004c0007t0003 a0005c0016t0005 a0005c0017t0001 a0007c0022t0002 a0008c0011t0003 a0011c0027t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 others(266): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0250 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0007g0042 a0001c0001t0008g0221 a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0229 a0001c0002t0001g0281 a0001c0002t0002g0155 a0001c0002t0002g0168 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0194 a0001c0002t0002g0202 a0001c0002t0002g0212 a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0021 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0045 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0122 a0001c0002t0003g0125 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0217 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0003g0277 a0001c0002t0004g0002 a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0021 a0001c0002t0004g0040 a0001c0002t0004g0123 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0002t0004g0144 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0166 a0001c0002t0004g0167 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0280 a0001c0006t0001g0047 a0001c0006t0001g0048 a0001c0006t0001g0243 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0009t0001g0046 a0001c0009t0002g0208 a0001c0010t0001g0278 a0001c0010t0001g0279 a0001c0012t0001g0090 a0001c0013t0001g0048 a0001c0018t0001g0065 a0001c0019t0002g0161 a0001c0020t0004g0203 a0001c0021t0006g0116 a0002c0003t0001g0004 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0005t0001g0010 a0002c0005t0001g0011 a0002c0005t0001g0038 a0002c0005t0001g0113 a0002c0023t0003g0111 a0003c0004t0001g0051 a0003c0004t0001g0129 a0003c0004t0001g0178 a0003c0004t0001g0257 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0267 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0276 a0003c0004t0001g0305 a0003c0004t0002g0201 a0003c0004t0005g0049 a0003c0004t0005g0253 a0003c0004t0005g0254 a0003c0004t0005g0255 a0003c0004t0005g0274 a0003c0008t0001g0266 a0003c0008t0003g0050 a0003c0015t0001g0258 a0004c0007t0003g0251 a0004c0007t0003g0256 a0004c0007t0003g0264 a0004c0007t0003g0265 a0004c0007t0003g0268 a0005c0016t0005g0252 a0005c0017t0001g0087 a0007c0022t0002g0186 a0008c0011t0003g0089 a0011c0027t0001g0241	348	406	0.8571	37	c.73- others(52): Show c.73-5915_73-5914insTTACTAGCCAGAATTGATTCTACTAAAGAA TCAAATT	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG2_chr1_230637481_230698982	230653525	T T	TTTGATTC others(30): Show TTTGATTCTACTAAAGAATCAAATTTTACTAGCCAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0242 a0001c0002t0004g0242	1	406	0.0025	37	c.73- others(52): Show c.73-5915_73-5914insTTACTAGCCAGAGTTGATTCTACTAAAGAA TCAAATT	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL18A1_chr21_45400165_45518720	45405298	C C	CGCGGGGC others(30): Show CGCGGGGCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18990.hp1 HG02004.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0253 a0001c0003t0001g0254 a0001c0001t0001g0253 a0001c0003t0001g0254	2	292	0.0069	37	c.11+ others(48): Show c.11+63_11+64insCTGCGGGGGTCGCGGGGCTCGGCCGGGTCCTGCG GGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	1/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500902	G G	GGGGGTGT others(30): Show GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0020 a0020	a0020c0094 a0020c0094	a0020c0094t0011 a0020c0094t0011	a0020c0094t0011g0075 a0020c0094t0011g0075	1	292	0.0034	37	c.268 others(56): Show c.2684-3101_2684-3100insGTTTGGTGTGTGTGTGTTGGGTGTGT AGTGGGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178258236	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	236	0.0042	37	c.730 others(52): Show c.730-670_730-669insATATATATATATATATATATATATATATAT ATATATA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518543	C C	CGGGGCGG others(30): Show CGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00558.hp1 others(92): Show HG00280.hp1 HG00280.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01358.hp2 HG01361.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0013	a0001c0001 a0001c0004 a0001c0021 others(12): Show a0001c0001 a0001c0004 a0001c0021 a0002c0002 a0002c0003 a0002c0014 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0004c0011 a0005c0008 a0005c0015 a0008c0018 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0021t0006 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0014t0003 a0002c0022t0009 a0003c0005t0003 a0003c0007t0001 a0004c0006t0003 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0005c0015t0002 a0008c0018t0003 a0013c0010t0002	a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0002g0055 others(92): Show a0001c0001t0001g0076 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0079 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0116 a0001c0001t0003g0159 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0004g0029 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0054 a0001c0001t0004g0071 a0001c0001t0004g0084 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0005g0072 a0001c0001t0005g0078 a0001c0001t0005g0147 a0001c0001t0005g0207 a0001c0001t0005g0216 a0001c0001t0005g0222 a0001c0001t0006g0230 a0001c0004t0001g0094 a0001c0004t0004g0110 a0001c0004t0004g0223 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0105 a0001c0021t0006g0234 a0002c0002t0001g0015 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0086 a0002c0002t0001g0176 a0002c0002t0001g0186 a0002c0002t0002g0149 a0002c0003t0002g0089 a0002c0003t0002g0097 a0002c0003t0003g0088 a0002c0003t0003g0126 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0169 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0221 a0002c0003t0005g0068 a0002c0003t0005g0092 a0002c0003t0005g0115 a0002c0014t0003g0124 a0002c0022t0009g0233 a0003c0005t0003g0010 a0003c0005t0003g0145 a0003c0005t0003g0217 a0003c0007t0001g0013 a0003c0007t0001g0044 a0003c0007t0001g0102 a0003c0007t0001g0103 a0004c0006t0003g0128 a0004c0006t0003g0130 a0004c0006t0003g0139 a0004c0006t0003g0143 a0004c0006t0003g0167 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0093 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0187 a0005c0015t0002g0017 a0008c0018t0003g0215 a0013c0010t0002g0117	95	236	0.4025	37	c.361 others(56): Show c.361+42102_361+42138dupATCTGGGAGGTGAGGAGCGTCTCTGC CCGGCCGCCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518552	C C	CGGGCAGA others(30): Show CGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGCGGCG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	236	0.0042	37	c.361 others(56): Show c.361+42129_361+42130insCGCCGCCCCATCTGGGAGGTGAGGAG CGCCTCTGCCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL25A1_chr4_108803725_109307658	108969844	C C	CAGTCTCT others(30): Show CAGTCTCTTCAGTGTATTCCAATTGTATTCTATAGCAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02976.hp1 HG02976.hp2 HG02145.hp1 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0004 a0001c0003t0024 a0001c0002t0005 a0001c0003t0004 a0001c0003t0024	a0001c0002t0005g0065 a0001c0003t0004g0001 a0001c0003t0024g0045 a0001c0002t0005g0065 a0001c0003t0004g0001 a0001c0003t0024g0045	3	130	0.0231	37	c.492 others(54): Show c.492+4522_492+4523insCTGCTATAGAATACAATTGGAATACACT GAAGAGACT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109131218	A A	AAAAGTAC others(30): Show AAAAGTACTATTAAATTTAATGTATTTAATTTACTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02486.hp1 others(1): Show HG02145.hp2 HG02451.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0026 a0001c0005t0002 a0001c0001t0001 a0001c0001t0026 a0001c0005t0002	a0001c0001t0001g0080 a0001c0001t0026g0046 a0001c0005t0002g0123 others(1): Show a0001c0001t0001g0080 a0001c0001t0026g0046 a0001c0005t0002g0123 a0001c0005t0002g0124	4	130	0.0308	37	c.368 others(56): Show c.368-81076_368-81040dupAAAAGTAAATTAAATACATTAAATTT AATAGTACTTT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	376	0.0027	37	c.-15 others(48): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGGAA others(30): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02165.hp2 NA19009.hp2 others(2): Show HG02155.hp1 HG02165.hp2 NA19009.hp2 NA19081.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0033 a0002c0002 others(2): Show a0001c0007 a0001c0033 a0002c0002 a0002c0018 a0002c0040	a0001c0007t0001 a0001c0033t0001 a0002c0002t0012 others(2): Show a0001c0007t0001 a0001c0033t0001 a0002c0002t0012 a0002c0018t0001 a0002c0040t0002	a0001c0007t0001g0145 a0001c0033t0001g0099 a0002c0002t0012g0293 others(2): Show a0001c0007t0001g0145 a0001c0033t0001g0099 a0002c0002t0012g0293 a0002c0018t0001g0234 a0002c0040t0002g0274	5	344	0.0145	37	c.85- others(54): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(30): Show AGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0025 a0001c0006t0001g0025	1	344	0.0029	37	c.85- others(54): Show c.85-13073_85-13072insCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGAAG others(30): Show AGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0002 a0002	a0002c0102 a0002c0109 a0002c0102 a0002c0109	a0002c0102t0001 a0002c0109t0002 a0002c0102t0001 a0002c0109t0002	a0002c0102t0001g0172 a0002c0109t0002g0267 a0002c0102t0001g0172 a0002c0109t0002g0267	2	344	0.0058	37	c.85- others(54): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227249228	A A	ATGTATAT others(30): Show ATGTATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0312 a0003c0002t0003g0312	1	344	0.0029	37	c.546 others(52): Show c.546+709_546+710insGTATATATATATATATATATATATATATAT ATATATT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18983.hp2 NA18522.hp2 NA18983.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0020 a0003c0002t0001g0042 a0001c0001t0001g0020 a0003c0002t0001g0042	2	344	0.0058	37	c.546 others(52): Show c.546+711_546+712insATATATATATATATATATATATATATATAT TTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0207 a0003c0002t0003g0207	1	344	0.0029	37	c.546 others(52): Show c.546+711_546+712insATATATATATATATATATATATATATATTT TTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227249230	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	344	0.0029	37	c.546 others(52): Show c.546+711_546+712insATATATATATATATATATATATATATTTTT TTTTTTT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	9/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981680	T T	TCTCCTCC others(30): Show TCTCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCTCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01255.hp2 others(8): Show HG00733.hp2 HG01123.hp1 HG01255.hp2 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG03453.hp1 HG03492.hp2 NA19005.hp1 NA19043.hp2 NA19070.hp2	a0002 a0004 a0014 a0002 a0004 a0014	a0002c0002 a0004c0005 a0014c0025 a0002c0002 a0004c0005 a0014c0025	a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 others(2): Show a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0004c0005t0001 a0014c0025t0001	a0002c0002t0001g0012 a0002c0002t0001g0040 a0002c0002t0001g0050 others(8): Show a0002c0002t0001g0012 a0002c0002t0001g0040 a0002c0002t0001g0050 a0002c0002t0008g0117 a0002c0002t0009g0038 a0002c0002t0009g0084 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0005t0001g0045 a0004c0005t0001g0047 a0014c0025t0001g0042	11	128	0.0859	37	c.-17 others(46): Show c.-171_-170insCTCCTCCCGCCCCTCCCCTCCCCTCCCGCCCCTCTC G	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		89		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134654	A A	AGGTTTAG others(30): Show AGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0220 a0002c0031t0001g0220	1	364	0.0028	37	c.21 others(48): Show c.2102_*2103insGGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGT GAG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1807		chr21	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	438	0.0023	37	c.-11 others(48): Show c.-1118_-1117insATATATATATATATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA19004.hp2 NA19060.hp1 NA18953.hp1 NA19004.hp2 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0124 a0002c0002t0001g0014 a0002c0002t0001g0124	3	438	0.0069	37	c.-11 others(48): Show c.-1118_-1117insAAATATATATATATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0001 a0022c0021t0001	a0022c0021t0001g0122 a0022c0021t0001g0122	1	438	0.0023	37	c.-11 others(48): Show c.-1118_-1117insAAAAATATATATATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0099 a0002c0002t0004g0099	1	438	0.0023	37	c.-11 others(48): Show c.-1118_-1117insAAATAAATATATATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	438	0.0023	37	c.-11 others(48): Show c.-1118_-1117insAAAAAAAAATATATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 NA18999.hp1 HG02622.hp2 NA18999.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0028 a0002c0002 a0003c0028	a0002c0002t0001 a0003c0028t0001 a0002c0002t0001 a0003c0028t0001	a0002c0002t0001g0023 a0003c0028t0001g0104 a0002c0002t0001g0023 a0003c0028t0001g0104	2	438	0.0046	37	c.-11 others(48): Show c.-1118_-1117insAAAAAAAAAAATATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	438	0.0023	37	c.-11 others(48): Show c.-1118_-1117insAAAAAAAAAAAAATATATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA19240.hp1 NA18997.hp1 NA19240.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0024 a0001c0001 a0019c0024	a0001c0001t0001 a0019c0024t0001 a0001c0001t0001 a0019c0024t0001	a0001c0001t0001g0064 a0019c0024t0001g0092 a0001c0001t0001g0064 a0019c0024t0001g0092	2	438	0.0046	37	c.-11 others(48): Show c.-1118_-1117insAAAAAAAAAAAAAAAAATATATATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COL9A2_chr1_40295489_40322286	40318314	A A	ATATATAT others(30): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0045 a0003c0005t0001g0045	1	438	0.0023	37	c.-11 others(48): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAAAAATATATATATAT ATA	COL9A2	ENSG00000049089.15	transcript	ENST00000372748.8	protein_coding		1029		chr1	TogoVar
COLEC11_chr2_3590112_3649644	3635077	C C	CTCCCCTG others(30): Show CTCCCCTGCCTGTCCCCCTCTCCCCTGCCTGTCCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00597.hp1 others(69): Show HG00140.hp2 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp2 HG01884.hp1 HG01975.hp2 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03540.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19081.hp1 NA19084.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0003c0012 others(2): Show a0001c0001 a0002c0002 a0003c0012 a0005c0011 a0007c0015	a0001c0001t0001 a0002c0002t0001 a0003c0012t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0012t0001 a0005c0011t0001 a0007c0015t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(65): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0218 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0321 a0001c0001t0001g0331 a0001c0001t0001g0342 a0001c0001t0001g0350 a0001c0001t0001g0359 a0002c0002t0001g0027 a0002c0002t0001g0038 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0347 a0003c0012t0001g0358 a0005c0011t0001g0032 a0007c0015t0001g0159	72	378	0.1905	37	c.203 others(54): Show c.203-2432_203-2396dupCTGCCTGTCCCCCATCCCCTGCCTGTCC CCCTCTCCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CORO1C_chr12_108640109_108736518	108655852	T T	TGTGAGGA others(30): Show TGTGAGGAGCCCCTCTGCCCGGCTGCCCAGTCTGGGAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	326	0.0031	37	c.750 others(54): Show c.750+1415_751-1443dupTTCCCAGACTGGGCAGCCGGGCAGAGGG GCTCCTCAC	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	6/10			chr12	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	406	0.0025	37	c.-30 others(48): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46762928	C C	CATATATA others(30): Show CATATATATACCACATATATATGTCATATATATGTTAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20129.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0237 a0001c0001t0002g0047 a0001c0001t0001g0237 a0001c0001t0002g0047	2	300	0.0067	37	c.-49 others(56): Show c.-49-27724_-49-27688dupTTAACATATATATGACATATATATGT GGTATATATAT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02165.hp1 HG02451.hp1 others(2): Show HG01167.hp1 HG02165.hp1 HG02451.hp1 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0001c0001t0001 a0001c0001t0002 a0001c0004t0002	a0001c0001t0001g0018 a0001c0001t0001g0167 a0001c0001t0001g0168 others(2): Show a0001c0001t0001g0018 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0216 a0001c0004t0002g0197	5	332	0.0151	37	c.308 others(54): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAAAAAGAAAGAA AGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	332	0.0030	37	c.308 others(54): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAAGAAAGAAAGAA AGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX1_chr4_779957_831129	826466	C C	CGGGGCGG others(30): Show CGGGGCGGGGGGCGGGGGTGGACCCGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18992.hp2 HG02132.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0347 a0001c0001t0002g0338 a0001c0001t0002g0347	2	416	0.0048	37	c.-50 others(46): Show c.-501_-500insCGCCCCCCGCCCCGGGTCCACCCCCGCCCCCCGCCC C	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		338		chr4	TogoVar
CPLX1_chr4_779957_831129	826471	C C	CGGGGGCG others(30): Show CGGGGGCGGGGGTGGACCCGGGGCGGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0302 a0001c0001t0015g0302	1	416	0.0024	37	c.-50 others(46): Show c.-506_-505insCGCCCCCGCCCCCCGCCCCGGGTCCACCCCCGCCCC C	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		343		chr4	TogoVar
CPLX1_chr4_779957_831129	826477	C C	CGGGGGTG others(30): Show CGGGGGTGGACCCGGGGCGGGGGCGGGGGGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	416	0.0024	37	c.-51 others(46): Show c.-512_-511insCGCCCCCGCCCCCCGCCCCCGCCCCGGGTCCACCCC C	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		349		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871415	G G	GAGAGAGA others(30): Show GAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0007 a0001c0001t0025g0007	1	378	0.0027	37	c.-37 others(46): Show c.-379_-378insAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAG A	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		162		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(30): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 NA18959.hp1 HG00408.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0002 a0001c0001t0007g0010 a0001c0001t0006g0002 a0001c0001t0007g0010	2	378	0.0053	37	c.-33 others(46): Show c.-338_-337insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPNE7_chr16_89570758_89602246	89587713	A A	ATGTCACC others(30): Show ATGTCACCCGCGTGTCACCCACAGATACACGGCCCCCG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	348	0.0029	37	c.927 others(52): Show c.927+612_927+613insGTCACCCGCGTGTCACCCACAGATACACGG CCCCCGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587793	C C	CCCGCGTG others(30): Show CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0324 a0002c0004t0002g0324	1	348	0.0029	37	c.927 others(52): Show c.927+693_927+694insGCGTGTCACCCACAGATACACGGCCCCCGT GTCAGCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CGTGTCAC others(30): Show CGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG04204.hp1 HG02723.hp2 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0006 a0001c0002t0002 a0001c0007t0006	a0001c0002t0002g0210 a0001c0007t0006g0064 a0001c0002t0002g0210 a0001c0007t0006g0064	2	348	0.0058	37	c.928 others(52): Show c.928-724_928-723insGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CGTGTCAC others(30): Show CGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0225 a0001c0002t0004g0225	1	348	0.0029	37	c.928 others(52): Show c.928-724_928-723insGTGTCACCCACAGATACACGGCCCCCCGTG TTACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588000	C C	CCCCCCGT others(30): Show CCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19067.hp1 NA18944.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0076 a0001c0002t0003g0181 a0001c0002t0003g0076 a0001c0002t0003g0181	2	348	0.0058	37	c.928 others(52): Show c.928-666_928-665insCACCCGCGTGTCACCCACAGATACACGGCC CCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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