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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CNTNAP2_chr7_146111801_148425998	146151652	ATATATAT others(39): Show ATATATATATATATATATATATATATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0003 a0001c0004t0005g0004 a0001c0001t0001g0003 a0001c0004t0005g0004	2	40	0.0500	-46	c.97+ others(63): Show c.97+34695_97+34740delATATATATATATATGTATATATATATAT ATGTATATATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721540	CTATATAT others(39): Show CTATATATATTCTATATACATTCTATATATATTCTATATACATTCTA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0018 a0001c0001t0007g0018	1	40	0.0250	-46	c.98- others(63): Show c.98-52699_98-52654delTCTATATACATTCTATATATATATTCTA TATACATTCTATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76373121	TATAAATA others(39): Show TATAAATAGGTGAATATATTCCACATAAATAGGTGAATATATTCCAC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0006 a0021c0037t0006	a0021c0037t0006g0171 a0021c0037t0006g0171	1	274	0.0037	-46	c.390 others(65): Show c.390+17706_390+17751delAATAGGTGAATATATTCCACATAAAT AGGTGAATATATTCCACATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COG4_chr16_70475571_70528554	70482884	TTCTCCCC others(39): Show TTCTCCCCATCCCTTCCCTCTATCCTCTCCCCATCCCTTTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	354	0.0028	-46	c.182 others(62): Show c.1828-109_1828-64delGGAGAGGAAAGGGATGGGGAGAGGATAGA GGGAAGGGATGGGGAGA	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	14/18			chr16	TogoVar
COL14A1_chr8_120120102_120378573	120200711	CTATTTAT others(39): Show CTATTTATATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03486.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0007 a0003c0010 a0001c0007 a0003c0010	a0001c0007t0001 a0003c0010t0002 a0003c0010t0007 a0001c0007t0001 a0003c0010t0002 a0003c0010t0007	a0001c0007t0001g0216 a0003c0010t0002g0078 a0003c0010t0007g0073 a0001c0007t0001g0216 a0003c0010t0002g0078 a0003c0010t0007g0073	3	218	0.0138	-46	c.877 others(63): Show c.877+1149_877+1194delTTATATATATATATATATATATATATAT ATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL18A1_chr21_45400165_45518720	45437899	CTCACTCA others(39): Show CTCACTCAGACACAGGCACTCTCCTGCACACACACACACACACTCAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02145.hp2 HG04204.hp2 HG00140.hp2 HG02145.hp2 HG04204.hp2	a0001 a0032 a0001 a0032	a0001c0001 a0001c0007 a0032c0052 a0001c0001 a0001c0007 a0032c0052	a0001c0001t0001 a0001c0007t0002 a0032c0052t0002 a0001c0001t0001 a0001c0007t0002 a0032c0052t0002	a0001c0001t0001g0142 a0001c0007t0002g0078 a0032c0052t0002g0077 a0001c0001t0001g0142 a0001c0007t0002g0078 a0032c0052t0002g0077	3	292	0.0103	-46	c.107 others(65): Show c.107-30342_107-30297delTCACTCAGACACAGGCACTCTCCTGC ACACACACACACACACTCAG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41			chr21	TogoVar
COL22A1_chr8_138583235_138919041	138698781	AGGTGAGA others(39): Show AGGTGAGAGAGGTGTGGTGTCCTCATGCAGTGAGTACCCGCCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02258.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0001t0002 a0001c0002t0005	a0001c0001t0002g0017 a0001c0002t0005g0151 a0001c0001t0002g0017 a0001c0002t0005g0151	2	158	0.0127	-46	c.259 others(65): Show c.2592+1285_2592+1330delCGCAGGGCGGGTACTCACTGCATGAG GACACCACACCTCTCTCACC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	32/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138813610	CAAGGGGC others(39): Show CAAGGGGCTTCAGGACACGTTAAAGTCCAGCGTTTCGTTCTACACTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00597.hp2 others(110): Show HG00280.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18985.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0015 a0016	a0001c0001 a0001c0002 a0001c0006 others(49): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0024 a0001c0026 a0001c0027 a0001c0028 a0001c0044 a0001c0045 a0001c0053 a0001c0054 a0001c0056 a0001c0057 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0011 a0002c0022 a0002c0023 a0002c0025 a0002c0029 a0002c0052 a0002c0059 a0002c0060 a0003c0013 a0003c0020 a0003c0031 a0003c0033 a0004c0019 a0004c0040 a0004c0041 a0005c0051 a0005c0061 a0006c0037 a0007c0058 a0008c0055 a0010c0030 a0011c0043 a0012c0050 a0013c0049 a0015c0039 a0016c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(82): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0006t0001 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0010t0007 a0001c0012t0001 a0001c0012t0002 a0001c0012t0005 a0001c0012t0010 a0001c0014t0011 a0001c0015t0002 a0001c0016t0001 a0001c0017t0005 a0001c0017t0007 a0001c0018t0001 a0001c0018t0004 a0001c0024t0016 a0001c0026t0001 a0001c0027t0001 a0001c0027t0002 a0001c0028t0001 a0001c0028t0003 a0001c0044t0002 a0001c0045t0001 a0001c0053t0001 a0001c0054t0002 a0001c0056t0004 a0001c0057t0009 a0002c0003t0001 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0008 a0002c0005t0001 a0002c0005t0002 a0002c0005t0003 a0002c0005t0009 a0002c0007t0001 a0002c0007t0003 a0002c0007t0005 a0002c0007t0008 a0002c0009t0001 a0002c0009t0002 a0002c0009t0015 a0002c0011t0001 a0002c0011t0005 a0002c0011t0006 a0002c0011t0012 a0002c0022t0002 a0002c0023t0001 a0002c0025t0004 a0002c0029t0002 a0002c0052t0002 a0002c0059t0001 a0002c0060t0004 a0003c0013t0001 a0003c0013t0003 a0003c0020t0007 a0003c0031t0004 a0003c0033t0002 a0004c0019t0001 a0004c0019t0014 a0004c0040t0004 a0004c0041t0002 a0005c0051t0001 a0005c0061t0001 a0006c0037t0008 a0007c0058t0002 a0008c0055t0005 a0010c0030t0004 a0011c0043t0001 a0012c0050t0002 a0013c0049t0006 a0015c0039t0001 a0016c0036t0002	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0080 others(110): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0002g0017 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0005g0142 a0001c0001t0006g0107 a0001c0001t0006g0114 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0108 a0001c0002t0002g0043 a0001c0002t0005g0151 a0001c0002t0007g0156 a0001c0006t0001g0054 a0001c0006t0001g0113 a0001c0008t0001g0041 a0001c0008t0002g0096 a0001c0008t0002g0133 a0001c0010t0001g0128 a0001c0010t0007g0155 a0001c0012t0001g0037 a0001c0012t0002g0059 a0001c0012t0005g0143 a0001c0012t0010g0012 a0001c0014t0011g0091 a0001c0015t0002g0120 a0001c0016t0001g0063 a0001c0016t0001g0097 a0001c0016t0001g0132 a0001c0017t0005g0149 a0001c0017t0005g0152 a0001c0017t0007g0147 a0001c0018t0001g0055 a0001c0018t0001g0075 a0001c0018t0004g0086 a0001c0024t0016g0158 a0001c0026t0001g0038 a0001c0026t0001g0061 a0001c0027t0001g0024 a0001c0027t0002g0022 a0001c0028t0001g0034 a0001c0028t0003g0008 a0001c0044t0002g0065 a0001c0045t0001g0066 a0001c0053t0001g0118 a0001c0054t0002g0090 a0001c0056t0004g0039 a0001c0057t0009g0048 a0002c0003t0001g0076 a0002c0003t0001g0112 a0002c0003t0003g0001 a0002c0004t0001g0127 a0002c0004t0002g0088 a0002c0004t0004g0094 a0002c0004t0008g0023 a0002c0005t0001g0074 a0002c0005t0002g0092 a0002c0005t0003g0005 a0002c0005t0009g0135 a0002c0007t0001g0081 a0002c0007t0001g0111 a0002c0007t0001g0137 a0002c0007t0003g0010 a0002c0007t0005g0145 a0002c0007t0008g0030 a0002c0009t0001g0072 a0002c0009t0001g0104 a0002c0009t0001g0119 a0002c0009t0002g0089 a0002c0009t0015g0146 a0002c0011t0001g0019 a0002c0011t0005g0144 a0002c0011t0006g0122 a0002c0011t0012g0139 a0002c0022t0002g0028 a0002c0023t0001g0036 a0002c0023t0001g0117 a0002c0025t0004g0103 a0002c0029t0002g0057 a0002c0052t0002g0058 a0002c0059t0001g0051 a0002c0060t0004g0106 a0003c0013t0001g0125 a0003c0013t0003g0002 a0003c0013t0003g0006 a0003c0020t0007g0150 a0003c0031t0004g0031 a0003c0033t0002g0015 a0004c0019t0001g0130 a0004c0019t0014g0154 a0004c0040t0004g0035 a0004c0041t0002g0042 a0005c0051t0001g0052 a0005c0061t0001g0105 a0006c0037t0008g0067 a0007c0058t0002g0095 a0008c0055t0005g0148 a0010c0030t0004g0021 a0011c0043t0001g0056 a0012c0050t0002g0110 a0013c0049t0006g0078 a0015c0039t0001g0134 a0016c0036t0002g0085	113	158	0.7152	-46	c.124 others(63): Show c.1246-637_1246-592delCAGTGTAGAACGAAACGCTGGACTTTAA CGTGTCCTGAAGCCCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	7/64			chr8	TogoVar
COL24A1_chr1_85724233_86161772	86097486	CCTCCCTC others(39): Show CCTCCCTCCTCCTCCCTTCTCCTCCTCCCTCCTCCTCCCTCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(42): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00639.hp2 HG01074.hp2 HG01106.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02273.hp1 HG02451.hp1 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02976.hp1 HG03239.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG03927.hp2 NA18951.hp2 NA18955.hp2 NA18978.hp2 NA18985.hp1 NA18990.hp2 NA18992.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19240.hp2 NA20752.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0006 a0008 a0018 a0039 a0042 a0044 a0045	a0001c0001 a0001c0005 a0003c0007 others(14): Show a0001c0001 a0001c0005 a0003c0007 a0003c0016 a0003c0027 a0003c0056 a0004c0002 a0006c0028 a0006c0058 a0006c0062 a0008c0006 a0008c0049 a0018c0023 a0039c0048 a0042c0065 a0044c0067 a0045c0068	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0003 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0003c0016t0001 a0003c0027t0002 a0003c0027t0008 a0003c0056t0001 a0004c0002t0001 a0006c0028t0002 a0006c0028t0003 a0006c0058t0001 a0006c0062t0001 a0008c0006t0001 a0008c0049t0002 a0018c0023t0004 a0039c0048t0002 a0042c0065t0004 a0044c0067t0001 a0045c0068t0003	a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0159 others(42): Show a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0178 a0001c0001t0002g0219 a0001c0001t0003g0157 a0001c0005t0001g0133 a0001c0005t0001g0184 a0001c0005t0003g0207 a0001c0005t0003g0218 a0003c0007t0001g0075 a0003c0007t0002g0080 a0003c0007t0002g0084 a0003c0007t0002g0085 a0003c0007t0002g0088 a0003c0007t0002g0090 a0003c0007t0003g0074 a0003c0016t0001g0170 a0003c0027t0002g0078 a0003c0027t0008g0064 a0003c0056t0001g0089 a0004c0002t0001g0151 a0006c0028t0002g0086 a0006c0028t0003g0072 a0006c0058t0001g0082 a0006c0062t0001g0094 a0008c0006t0001g0034 a0008c0006t0001g0049 a0008c0006t0001g0050 a0008c0006t0001g0054 a0008c0006t0001g0056 a0008c0006t0001g0059 a0008c0049t0002g0057 a0018c0023t0004g0107 a0018c0023t0004g0108 a0039c0048t0002g0051 a0042c0065t0004g0188 a0044c0067t0001g0175 a0045c0068t0003g0168	45	238	0.1891	-46	c.160 others(65): Show c.1600-5212_1600-5167delAGGGAGGAGGGAGGAGGAGGGAGGAG GAGAAGGGAGGAGGAGGGAG	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	5/59			chr1	TogoVar
COL4A1_chr13_110143963_110312157	110219842	ATGTGTAT others(39): Show ATGTGTATATATATGTATATATGTGTGTGTATATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02135.hp2 others(10): Show HG01243.hp1 HG02109.hp1 HG02135.hp2 HG02258.hp2 HG02486.hp2 HG02809.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp1 NA18968.hp2 NA19003.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0002c0004 others(5): Show a0001c0001 a0002c0002 a0002c0004 a0002c0029 a0002c0108 a0003c0009 a0004c0005 a0004c0021	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0029t0003 a0002c0108t0001 a0003c0009t0001 a0004c0005t0001 a0004c0021t0001	a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0082 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0082 a0002c0002t0001g0247 a0002c0004t0001g0252 a0002c0029t0003g0215 a0002c0029t0003g0230 a0002c0108t0001g0251 a0003c0009t0001g0201 a0003c0009t0001g0229 a0003c0009t0001g0238 a0004c0005t0001g0096 a0004c0021t0001g0063	13	344	0.0378	-46	c.145 others(63): Show c.145-5873_145-5828delCATATATATACATATATACACACACATA TATACATATATATACACA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227041802	AAGGAAGA others(39): Show AAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp1 HG02818.hp2 HG02965.hp1	a0011 a0011	a0011c0012 a0011c0053 a0011c0012 a0011c0053	a0011c0012t0006 a0011c0053t0015 a0011c0012t0006 a0011c0053t0015	a0011c0012t0006g0032 a0011c0053t0015g0152 a0011c0012t0006g0032 a0011c0053t0015g0152	2	284	0.0070	-46	c.350 others(63): Show c.3505+300_3505+345delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45977811	GGAGGGAG others(39): Show GGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02145.hp1 HG02145.hp2 others(6): Show HG00733.hp2 HG02145.hp1 HG02145.hp2 HG02630.hp2 HG03195.hp2 HG03453.hp1 NA18983.hp1 NA18983.hp2 NA19043.hp2	a0002 a0004 a0012 others(2): Show a0002 a0004 a0012 a0014 a0016	a0002c0002 a0004c0030 a0012c0033 others(2): Show a0002c0002 a0004c0030 a0012c0033 a0014c0025 a0016c0026	a0002c0002t0001 a0002c0002t0009 a0004c0030t0001 others(3): Show a0002c0002t0001 a0002c0002t0009 a0004c0030t0001 a0012c0033t0002 a0014c0025t0001 a0016c0026t0002	a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0050 others(6): Show a0002c0002t0001g0012 a0002c0002t0001g0037 a0002c0002t0001g0050 a0002c0002t0001g0119 a0002c0002t0009g0038 a0004c0030t0001g0085 a0012c0033t0002g0080 a0014c0025t0001g0042 a0016c0026t0002g0116	9	128	0.0703	-46	c.-40 others(57): Show c.-4039_-3994delGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAG GAGGGAGGGGGA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3958		chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133673	CTCAGCCT others(39): Show CTCAGCCTATTCTAGGATGAGCTCACCCGAGTCACACTGGACCAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	372	0.0027	-46	c.41 others(57): Show c.4183_*4228delTCAGCCTATTCTAGGATGAGCTCACCCGAGTCAC ACTGGACCAGGG	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		3873		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133673	CTCAGCCT others(39): Show CTCAGCCTATTCTAGGATGAGCTCACCCGAGTCACACTGGACCAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	364	0.0028	-46	c.11 others(57): Show c.1122_*1167delTCAGCCTATTCTAGGATGAGCTCACCCGAGTCAC ACTGGACCAGGG	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		826		chr21	TogoVar
COL6A6_chr3_130512177_130682042	130641169	GTTGCCTA others(39): Show GTTGCCTATTGCAGCAACAAACAGTAAGGGACTAACTAAATTATCTA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01943.hp1 HG03831.hp2 others(3): Show HG01257.hp1 HG01943.hp1 HG03831.hp2 NA18966.hp2 NA18982.hp2 NA19002.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0002c0049 others(2): Show a0001c0001 a0002c0002 a0002c0049 a0006c0007 a0007c0018	a0001c0001t0001 a0002c0002t0007 a0002c0049t0003 others(3): Show a0001c0001t0001 a0002c0002t0007 a0002c0049t0003 a0006c0007t0003 a0006c0007t0005 a0007c0018t0003	a0001c0001t0001g0188 a0002c0002t0007g0228 a0002c0049t0003g0189 others(3): Show a0001c0001t0001g0188 a0002c0002t0007g0228 a0002c0049t0003g0189 a0006c0007t0003g0130 a0006c0007t0005g0052 a0007c0018t0003g0015	6	264	0.0227	-46	c.509 others(63): Show c.5092-476_5092-431delATTGCAGCAACAAACAGTAAGGGACTAA CTAAATTATCTATTGCCT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130641182	GCAACAAA others(39): Show GCAACAAACAGTAAGGGACTAACTAAATTATCTATTGCCTGTTACAA	G G	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0255 a0001c0001t0010g0255	1	264	0.0038	-46	c.509 others(63): Show c.5092-442_5092-397delTATCTATTGCCTGTTACAACAACAAACA GTAAGGGACTAACTAAAT	COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
COLEC11_chr2_3590112_3649644	3615798	AGGCAGGG others(39): Show AGGCAGGGGCTGCCCCCCACCTCCCTCCCGGACGCGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0007 a0001c0014 others(11): Show a0001c0001 a0001c0007 a0001c0014 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0003c0009 a0003c0010 a0003c0012 a0004c0008 a0005c0011 a0007c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0007t0001 a0001c0014t0001 a0002c0002t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0002 a0002c0006t0001 a0003c0009t0001 a0003c0010t0001 a0003c0012t0001 a0004c0008t0001 a0005c0011t0001 a0007c0015t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(256): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0349 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0003g0082 a0001c0001t0003g0134 a0001c0001t0004g0174 a0001c0001t0005g0127 a0001c0007t0001g0135 a0001c0007t0001g0224 a0001c0007t0001g0259 a0001c0014t0001g0156 a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0035 a0002c0002t0001g0062 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0215 a0002c0002t0001g0302 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0316 a0002c0002t0001g0341 a0002c0002t0001g0347 a0002c0002t0001g0363 a0002c0003t0001g0003 a0002c0003t0001g0024 a0002c0003t0001g0040 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0186 a0002c0003t0001g0197 a0002c0003t0001g0277 a0002c0004t0001g0214 a0002c0004t0001g0263 a0002c0004t0001g0286 a0002c0004t0001g0289 a0002c0004t0001g0317 a0002c0004t0001g0322 a0002c0005t0002g0018 a0002c0005t0002g0211 a0002c0005t0002g0212 a0002c0006t0001g0031 a0002c0006t0001g0199 a0002c0006t0001g0200 a0002c0006t0001g0315 a0002c0006t0001g0329 a0002c0006t0001g0333 a0003c0009t0001g0356 a0003c0010t0001g0357 a0003c0012t0001g0358 a0004c0008t0001g0225 a0005c0011t0001g0032 a0007c0015t0001g0159	266	378	0.7037	-46	c.202 others(63): Show c.202+2466_202+2511delAGGGGCTGCCCCCCACCTCCCTCCCGGA CGCGGCGGCTGGCCGGGC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3615848	AGGGGCTG others(39): Show AGGGGCTGCCCCCCACCTCCCTCCCGGACGCGGCGGCTGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	378	0.0027	-46	c.202 others(63): Show c.202+2496_202+2541delCGGCGGCTGGCCGGGCGGGGGCTGCCCC CCACCTCCCTCCCGGACG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COPA_chr1_160283594_160348250	160339105	GCTCATTT others(39): Show GCTCATTTATTTCTCCTTATTGGCCCTTATTTCTCCTTATTGGCCAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02258.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0010g0081 others(1): Show a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0010g0081 a0001c0001t0010g0082	4	366	0.0109	-46	c.228 others(61): Show c.228+758_228+803delATGGCCAATAAGGAGAAATAAGGGCCAATA AGGAGAAATAAATGAG	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	3/32			chr1	TogoVar
COPS5_chr8_67038079_67067133	67056650	AAAATATA others(39): Show AAAATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	292	0.0034	-46	c.574 others(59): Show c.574-92_574-47delATATATATATATATATATATATATATATATAT ATATATATATATTT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7			chr8	TogoVar
COQ8A_chr1_226935294_226992544	226944704	AGAGAGAG others(39): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18612.hp2 NA18950.hp2 others(2): Show HG02165.hp1 NA18612.hp2 NA18950.hp2 NA18957.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0309 a0001c0001t0002g0310 others(1): Show a0001c0001t0002g0024 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311	5	412	0.0121	-46	c.-10 others(63): Show c.-10+4319_-10+4364delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGTGAGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPA6_chr8_67417038_67751360	67472369	TTTATTTT others(39): Show TTTATTTTTTTATTTTATTTTATTTTATTTTATTTTATCTTATCTTA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02055.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG02055.hp1 HG02257.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0114 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0138 a0002c0002t0001g0023 a0002c0002t0001g0067 a0002c0002t0001g0144	10	144	0.0694	-46	c.838 others(65): Show c.838+11353_838+11398delTAAGATAAGATAAAATAAAATAAAAT AAAATAAAATAAAAAAATAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPNE4_chr3_131528569_132040014	131952571	GGGGGGTC others(39): Show GGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCCGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0091 a0001c0005t0015g0091	1	94	0.0106	-46	c.-1- others(63): Show c.-1-47173_-1-47128delACCTCCCTCCGGACGGGGCGGCTGGCCG GGCGGGGTGCTGACCCCC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CREB3L1_chr11_46272662_46326409	46305612	GTGTGTGT others(39): Show GTGTGTGTATATATATGTATATATATACATATATATGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18970.hp1 NA19079.hp1 NA18941.hp1 NA18970.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	3	304	0.0099	-46	c.332 others(63): Show c.332-2186_332-2141delATATATATACATATATATGTGTGTATAT ATGTGTGTATATATATGT	CREB3L1	ENSG00000157613.11	transcript	ENST00000621158.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137922392	ATATATAT others(39): Show ATATATATATATATATATATATATGTATATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02523.hp2 HG00597.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0023 a0002c0002t0002g0105 a0002c0002t0001g0023 a0002c0002t0002g0105	2	288	0.0069	-46	c.319 others(63): Show c.319+5712_319+5757delCGTATATATATATATATATATACATATA TATATATATATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB5_chr7_28407518_28830894	28560950	GCGTGTGT others(39): Show GCGTGTGTGTGCGTGTGTGTGTGCGTGTGTGCGTGCGTGTGTGTGCC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0093 a0001c0001t0013g0093	1	198	0.0051	-46	c.292 others(63): Show c.292-9414_292-9369delCGTGTGTGTGCGTGTGTGTGTGCGTGTG TGCGTGCGTGTGTGTGCC	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	4/10			chr7	TogoVar
CREM_chr10_35121846_35217953	35187148	TATATATA others(39): Show TATATATAATATATATTATATATTAATATTAATATATAAATATATTA	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	294	0.0034	-46	c.410 others(62): Show c.410-1028_410-983delAATATTAATATATAAATATATTAATATAT AATATATATTATATATT	CREM	ENSG00000095794.21	transcript	ENST00000685392.1	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CROCC2_chr2_240901336_240998311	240928720	TGCCCTCG others(39): Show TGCCCTCGGAGGGCGTGCAGACAGGTGTAACGGGCTCAGAGGAGCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01433.hp2 others(7): Show HG00140.hp1 HG00735.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG03017.hp2 HG03491.hp1 HG03704.hp2 NA20805.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0012 others(1): Show a0001c0001 a0002c0002 a0002c0012 a0008c0008	a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0008c0008t0002	a0001c0001t0004g0285 a0001c0001t0004g0340 a0002c0002t0001g0057 others(7): Show a0001c0001t0004g0285 a0001c0001t0004g0340 a0002c0002t0001g0057 a0002c0002t0002g0235 a0002c0012t0002g0250 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0002c0012t0002g0338 a0008c0008t0002g0286	10	350	0.0286	-46	c.646 others(63): Show c.646-1421_646-1376delTGTAACGGGCTCAGAGGAGCACGCCCTC GGAGGGCGTGCAGACAGG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240984527	TTCCACAC others(39): Show TTCCACACACACCCAGGCACTCACTCCACACACACCCAGGCACTCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(108): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp1 NA19066.hp1 NA19067.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0013 a0014 a0015 a0017 a0018 a0020 a0023 a0026 a0028 a0031 a0036 a0037 a0038 a0042 a0049 a0050 a0055 a0058	a0001c0001 a0001c0020 a0001c0024 others(35): Show a0001c0001 a0001c0020 a0001c0024 a0001c0060 a0002c0002 a0002c0012 a0003c0003 a0003c0086 a0003c0087 a0005c0005 a0006c0007 a0007c0006 a0009c0010 a0009c0048 a0013c0023 a0013c0075 a0013c0076 a0014c0014 a0015c0016 a0017c0041 a0017c0062 a0017c0063 a0018c0017 a0020c0026 a0020c0028 a0020c0029 a0023c0054 a0026c0078 a0028c0047 a0031c0052 a0036c0085 a0037c0088 a0038c0082 a0042c0065 a0049c0040 a0050c0039 a0055c0035 a0058c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0020t0001 a0001c0020t0002 a0001c0024t0002 a0001c0060t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0002 a0003c0003t0001 a0003c0086t0001 a0003c0087t0002 a0005c0005t0001 a0005c0005t0002 a0005c0005t0003 a0006c0007t0001 a0007c0006t0003 a0009c0010t0001 a0009c0010t0003 a0009c0048t0001 a0013c0023t0001 a0013c0023t0008 a0013c0075t0001 a0013c0076t0001 a0014c0014t0001 a0015c0016t0001 a0017c0041t0003 a0017c0062t0001 a0017c0063t0004 a0018c0017t0002 a0020c0026t0001 a0020c0028t0001 a0020c0029t0001 a0023c0054t0001 a0026c0078t0004 a0028c0047t0001 a0031c0052t0001 a0036c0085t0003 a0037c0088t0003 a0038c0082t0001 a0042c0065t0002 a0049c0040t0001 a0050c0039t0003 a0055c0035t0003 a0058c0027t0003	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(105): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0234 a0001c0001t0002g0236 a0001c0001t0002g0267 a0001c0001t0003g0003 a0001c0001t0003g0064 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0159 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0003g0226 a0001c0001t0004g0271 a0001c0001t0004g0285 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0319 a0001c0001t0004g0340 a0001c0020t0001g0129 a0001c0020t0002g0263 a0001c0024t0002g0238 a0001c0024t0002g0342 a0001c0060t0001g0150 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0181 a0002c0002t0002g0283 a0002c0002t0002g0318 a0002c0012t0002g0292 a0002c0012t0002g0293 a0002c0012t0002g0294 a0002c0012t0002g0338 a0003c0003t0001g0011 a0003c0003t0001g0029 a0003c0003t0001g0039 a0003c0003t0001g0043 a0003c0003t0001g0047 a0003c0086t0001g0066 a0003c0087t0002g0346 a0005c0005t0001g0036 a0005c0005t0001g0065 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0116 a0005c0005t0001g0117 a0005c0005t0002g0345 a0005c0005t0003g0004 a0005c0005t0003g0023 a0005c0005t0003g0044 a0005c0005t0003g0059 a0005c0005t0003g0160 a0005c0005t0003g0184 a0006c0007t0001g0212 a0007c0006t0003g0002 a0007c0006t0003g0079 a0007c0006t0003g0080 a0007c0006t0003g0081 a0007c0006t0003g0097 a0007c0006t0003g0103 a0007c0006t0003g0162 a0007c0006t0003g0164 a0009c0010t0001g0203 a0009c0010t0003g0190 a0009c0010t0003g0192 a0009c0010t0003g0197 a0009c0010t0003g0206 a0009c0010t0003g0210 a0009c0010t0003g0211 a0009c0010t0003g0219 a0009c0010t0003g0229 a0009c0048t0001g0207 a0013c0023t0001g0114 a0013c0023t0008g0110 a0013c0075t0001g0178 a0013c0076t0001g0105 a0014c0014t0001g0134 a0014c0014t0001g0135 a0014c0014t0001g0173 a0014c0014t0001g0174 a0015c0016t0001g0201 a0017c0041t0003g0163 a0017c0062t0001g0161 a0017c0063t0004g0310 a0018c0017t0002g0240 a0018c0017t0002g0241 a0018c0017t0002g0242 a0020c0026t0001g0046 a0020c0028t0001g0027 a0020c0029t0001g0012 a0023c0054t0001g0189 a0026c0078t0004g0341 a0028c0047t0001g0202 a0031c0052t0001g0169 a0036c0085t0003g0032 a0037c0088t0003g0148 a0038c0082t0001g0147 a0042c0065t0002g0339 a0049c0040t0001g0096 a0050c0039t0003g0214 a0055c0035t0003g0232 a0058c0027t0003g0026	111	350	0.3171	-46	c.455 others(65): Show c.4551+1556_4551+1601delCCAGGCACTCACTCCACACACACCCA GGCACTCACTCCACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240984794	TCACTCCA others(39): Show TCACTCCACACACACACCCAGGCACTCAATCCACACACACACCCAGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01081.hp2 others(76): Show HG00642.hp1 HG00733.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18945.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19088.hp2 NA20129.hp1	a0001 a0002 a0005 others(16): Show a0001 a0002 a0005 a0007 a0009 a0011 a0012 a0017 a0022 a0023 a0026 a0029 a0036 a0037 a0038 a0050 a0055 a0058 a0061	a0001c0001 a0001c0022 a0002c0021 others(18): Show a0001c0001 a0001c0022 a0002c0021 a0005c0005 a0007c0006 a0009c0010 a0011c0080 a0012c0013 a0017c0041 a0017c0063 a0022c0038 a0023c0055 a0026c0078 a0029c0049 a0036c0085 a0037c0088 a0038c0082 a0050c0039 a0055c0035 a0058c0027 a0061c0094	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0022t0002 a0002c0021t0006 a0005c0005t0001 a0005c0005t0003 a0007c0006t0001 a0007c0006t0003 a0007c0006t0009 a0009c0010t0003 a0011c0080t0001 a0012c0013t0001 a0017c0041t0003 a0017c0063t0004 a0022c0038t0001 a0023c0055t0001 a0026c0078t0004 a0029c0049t0001 a0036c0085t0003 a0037c0088t0003 a0038c0082t0001 a0050c0039t0003 a0055c0035t0003 a0058c0027t0003 a0061c0094t0001	a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0001g0156 others(73): Show a0001c0001t0001g0082 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0280 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0326 a0001c0001t0003g0003 a0001c0001t0003g0064 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0159 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0196 a0001c0001t0003g0226 a0001c0001t0004g0271 a0001c0001t0004g0285 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0319 a0001c0001t0004g0340 a0001c0022t0002g0343 a0002c0021t0006g0069 a0005c0005t0001g0016 a0005c0005t0001g0017 a0005c0005t0001g0065 a0005c0005t0001g0067 a0005c0005t0001g0068 a0005c0005t0001g0075 a0005c0005t0001g0138 a0005c0005t0003g0004 a0005c0005t0003g0023 a0005c0005t0003g0044 a0005c0005t0003g0059 a0005c0005t0003g0160 a0005c0005t0003g0184 a0007c0006t0001g0099 a0007c0006t0003g0002 a0007c0006t0003g0079 a0007c0006t0003g0080 a0007c0006t0003g0081 a0007c0006t0003g0097 a0007c0006t0003g0103 a0007c0006t0003g0164 a0007c0006t0009g0102 a0009c0010t0003g0190 a0009c0010t0003g0192 a0009c0010t0003g0197 a0009c0010t0003g0206 a0009c0010t0003g0211 a0009c0010t0003g0219 a0009c0010t0003g0229 a0011c0080t0001g0142 a0012c0013t0001g0121 a0017c0041t0003g0163 a0017c0063t0004g0310 a0022c0038t0001g0050 a0023c0055t0001g0172 a0026c0078t0004g0341 a0029c0049t0001g0198 a0036c0085t0003g0032 a0037c0088t0003g0148 a0038c0082t0001g0147 a0050c0039t0003g0214 a0055c0035t0003g0232 a0058c0027t0003g0026 a0061c0094t0001g0053	79	350	0.2257	-46	c.455 others(65): Show c.4551+1782_4551+1827delCCAGGCACTCAATCCACACACACACC CAGGCACTCCACACACACAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRPPA_chr7_16082525_16426538	16314146	TTCTATTA others(39): Show TTCTATTAGTTTTTGCCTCACATATAAGGATGGTCTGTTGTTAGATG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0052 a0001c0001t0065g0052	1	290	0.0035	-46	c.685 others(63): Show c.685-5565_685-5520delCATCTAACAACAGACCATCCTTATATGT GAGGCAAAAACTAATAGA	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	3/9			chr7	TogoVar
CSF1R_chr5_150048295_150091554	150083040	TTGTCCTA others(39): Show TTGTCCTATCCTATTGTCCCAGGTATTCACGCAGGATAAGGCTGATA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0171 a0001c0002t0016g0171	1	406	0.0025	-46	c.50- others(61): Show c.50-2062_50-2017delTATCAGCCTTATCCTGCGTGAATACCTGGG ACAATAGGATAGGACA	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666777	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0039 a0010c0018t0003g0039	1	238	0.0042	-46	c.-39 others(67): Show c.-391-64958_-391-64913delCTCTCTCTCTCTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2985314	AGTGAGGG others(39): Show AGTGAGGGAGGAGACTGTGGTGTGATACTGCTACACTGTTTCACCAC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0036 a0036	a0036c0100 a0036c0100	a0036c0100t0017 a0036c0100t0017	a0036c0100t0017g0121 a0036c0100t0017g0121	1	126	0.0079	-46	c.837 others(65): Show c.8378-6560_8378-6515delGTGGTGAAACAGTGTAGCAGTATCAC ACCACAGTCTCCTCCCTCAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3384719	TAATATTT others(39): Show TAATATTTATATATATTATATAAATATATATTTATATAAATTATATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0036 a0002c0036	a0002c0036t0029 a0002c0036t0029	a0002c0036t0029g0009 a0002c0036t0029g0009	1	126	0.0079	-46	c.278 others(65): Show c.2782+2729_2782+2774delTATATAATTTATATAAATATATATTT ATATAATATATATAAATATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558323	ATGATGCC others(39): Show ATGATGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAATGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG04204.hp1 HG04204.hp2 others(1): Show HG01074.hp2 HG04204.hp1 HG04204.hp2 NA19043.hp1	a0001 a0004 a0034 a0001 a0004 a0034	a0001c0001 a0001c0093 a0004c0056 others(1): Show a0001c0001 a0001c0093 a0004c0056 a0034c0055	a0001c0001t0002 a0001c0093t0009 a0004c0056t0062 others(1): Show a0001c0001t0002 a0001c0093t0009 a0004c0056t0062 a0034c0055t0034	a0001c0001t0002g0102 a0001c0093t0009g0007 a0004c0056t0062g0072 others(1): Show a0001c0001t0002g0102 a0001c0093t0009g0007 a0004c0056t0062g0072 a0034c0055t0034g0047	4	126	0.0318	-46	c.134 others(67): Show c.1344+16576_1344+16621delCCATTCATCATTGGAGGAGTGGAC ACGGGGTACTACTGAGGCATCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795393	GATATCTA others(39): Show GATATCTATCATAGATATAGATATATATCTATCATAGATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02683.hp2 HG03834.hp2 others(2): Show HG02074.hp1 HG02683.hp2 HG03834.hp2 NA18995.hp2 NA19074.hp1	a0001 a0002 a0039 a0001 a0002 a0039	a0001c0040 a0001c0079 a0002c0037 others(2): Show a0001c0040 a0001c0079 a0002c0037 a0002c0076 a0039c0009	a0001c0040t0019 a0001c0079t0072 a0002c0037t0009 others(2): Show a0001c0040t0019 a0001c0079t0072 a0002c0037t0009 a0002c0076t0035 a0039c0009t0001	a0001c0040t0019g0123 a0001c0079t0072g0113 a0002c0037t0009g0046 others(2): Show a0001c0040t0019g0123 a0001c0079t0072g0113 a0002c0037t0009g0046 a0002c0076t0035g0014 a0039c0009t0001g0002	5	126	0.0397	-46	c.819 others(65): Show c.819-41397_819-41352delATATCTATATCTATGATAGATATATA TCTATATCTATGATAGATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796342	ATATCTAT others(39): Show ATATCTATCATGTATAGATATAGATATCTATCATGTATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02647.hp1 others(1): Show HG01884.hp2 HG02280.hp1 HG02647.hp1 HG03195.hp1	a0002 a0003 a0002 a0003	a0002c0022 a0002c0053 a0002c0054 others(1): Show a0002c0022 a0002c0053 a0002c0054 a0003c0058	a0002c0022t0036 a0002c0053t0022 a0002c0054t0079 others(1): Show a0002c0022t0036 a0002c0053t0022 a0002c0054t0079 a0003c0058t0057	a0002c0022t0036g0048 a0002c0053t0022g0041 a0002c0054t0079g0096 others(1): Show a0002c0022t0036g0048 a0002c0053t0022g0041 a0002c0054t0079g0096 a0003c0058t0057g0117	4	126	0.0318	-46	c.819 others(65): Show c.819-42346_819-42301delGATATATATATACATGATAGATATCT ATATCTATACATGATAGATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796364	GATATCTA others(39): Show GATATCTATCATGTATATATATATCTATCATGTATAGATATAGATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01074.hp2 HG03669.hp2 HG00099.hp2 HG01074.hp2 HG03669.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0056 a0001c0001 a0001c0005 a0004c0056	a0001c0001t0039 a0001c0005t0007 a0004c0056t0062 a0001c0001t0039 a0001c0005t0007 a0004c0056t0062	a0001c0001t0039g0017 a0001c0005t0007g0070 a0004c0056t0062g0072 a0001c0001t0039g0017 a0001c0005t0007g0070 a0004c0056t0062g0072	3	126	0.0238	-46	c.819 others(65): Show c.819-42368_819-42323delATATCTATATCTATACATGATAGATA TATATATACATGATAGATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926036	CACACACA others(39): Show CACACACAAACACCATATACACACACACACACACACACAAACACCAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0011 a0011	a0011c0110 a0011c0110	a0011c0110t0074 a0011c0110t0074	a0011c0110t0074g0082 a0011c0110t0074g0082	1	126	0.0079	-46	c.818 others(65): Show c.818+71821_818+71866delATGGTGTTTGTGTGTGTGTGTGTGTG TGTATATGGTGTTTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920892	AAAAGAAA others(39): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01884.hp2 HG02615.hp2 others(3): Show HG00099.hp2 HG01884.hp2 HG02615.hp2 HG03017.hp1 HG06807.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(3): Show a0001c0002 a0001c0004 a0001c0005 a0001c0019 a0001c0068 a0002c0022	a0001c0002t0061 a0001c0004t0063 a0001c0005t0007 others(3): Show a0001c0002t0061 a0001c0004t0063 a0001c0005t0007 a0001c0019t0078 a0001c0068t0015 a0002c0022t0036	a0001c0002t0061g0069 a0001c0004t0063g0095 a0001c0005t0007g0070 others(3): Show a0001c0002t0061g0069 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0019t0078g0105 a0001c0068t0015g0049 a0002c0022t0036g0048	6	126	0.0476	-46	c.85+ others(63): Show c.85+73394_85+73439delCTTTCTCTCTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04115.hp2 NA18944.hp1 HG03688.hp2 HG04115.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0021 a0001c0001 a0001c0007 a0001c0021	a0001c0001t0002 a0001c0007t0001 a0001c0021t0004 a0001c0001t0002 a0001c0007t0001 a0001c0021t0004	a0001c0001t0002g0014 a0001c0007t0001g0012 a0001c0021t0004g0037 a0001c0001t0002g0014 a0001c0007t0001g0012 a0001c0021t0004g0037	3	80	0.0375	-46	c.710 others(65): Show c.710-13469_710-13424delATATATATATATATATATATATATAT ATATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542594	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	390	0.0026	-46	c.230 others(63): Show c.230+7435_230+7480delCATATATATATATATATATATATATATA TATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542626	ATATATAT others(39): Show ATATATATATATATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp2 HG02293.hp2 others(5): Show HG00140.hp1 HG02004.hp2 HG02293.hp2 HG02300.hp1 HG02735.hp2 HG03486.hp2 HG03831.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0028 a0001c0001t0031 a0001c0001t0052	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(5): Show a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0091 a0001c0001t0009g0239 a0001c0001t0028g0330 a0001c0001t0031g0008 a0001c0001t0052g0328	8	390	0.0205	-46	c.230 others(63): Show c.230+7403_230+7448delCATATATATATATATATATATATATATA TATACATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CUL4A_chr13_113204613_113272108	113263022	TGTCGGGT others(39): Show TGTCGGGTCTGCCTCGCTTATACGTGCCCTTGCTGATGGCAGATGTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18952.hp2 NA19005.hp2 others(1): Show HG02135.hp1 NA18952.hp2 NA19005.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0308 a0001c0001t0001g0309 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310	4	396	0.0101	-46	c.218 others(63): Show c.2185-463_2185-418delTCGGGTCTGCCTCGCTTATACGTGCCCT TGCTGATGGCAGATGTCG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CXCL13_chr4_77600820_77616834	77609376	AGTCATGG others(39): Show AGTCATGGCTCACTGCAGCCTCAACCTCCTGGGTTCAAGCAAGCCTC	A A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	366	0.0027	-46	c.198 others(63): Show c.198-1237_198-1192delGTCATGGCTCACTGCAGCCTCAACCTCC TGGGTTCAAGCAAGCCTC	CXCL13	ENSG00000156234.8	transcript	ENST00000682537.1	protein_coding	2/3			chr4	TogoVar
CXCL16_chr17_4728533_4744928	4743205	CTCTAGCT others(39): Show CTCTAGCTTGGGTGATAGAGCAAGACTCTGTCTCAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01099.hp2 others(7): Show HG00642.hp2 HG00735.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02273.hp1 HG02293.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0003g0003 a0002c0002t0002g0002 a0001c0001t0001g0007 a0001c0001t0003g0003 a0002c0002t0002g0002	10	438	0.0228	-46	c.-39 others(57): Show c.-3912_-3867delTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATC ACCCAAGCTAGA	CXCL16	ENSG00000161921.17	transcript	ENST00000293778.12	protein_coding		3278		chr17	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(39): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp2 others(32): Show HG00408.hp2 HG00544.hp1 HG00597.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG02071.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02886.hp2 HG03654.hp1 NA18522.hp1 NA18943.hp1 NA18968.hp2 NA18969.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA19005.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA19081.hp1	a0001 a0006 a0028 others(1): Show a0001 a0006 a0028 a0029	a0001c0001 a0001c0026 a0006c0028 others(2): Show a0001c0001 a0001c0026 a0006c0028 a0028c0033 a0029c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0026t0002 a0006c0028t0007 a0028c0033t0002 a0029c0034t0001	a0001c0001t0001g0011 a0001c0001t0001g0101 a0001c0001t0002g0003 others(10): Show a0001c0001t0001g0011 a0001c0001t0001g0101 a0001c0001t0002g0003 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0003g0038 a0001c0001t0003g0097 a0001c0001t0006g0037 a0001c0001t0006g0100 a0001c0026t0002g0094 a0006c0028t0007g0055 a0028c0033t0002g0098 a0029c0034t0001g0099	35	398	0.0879	-46	c.344 others(61): Show c.344-181_344-136delCTCTCTCTCTCCCTCGTGTTTCTCTGACTG AGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78320444	GGCTCTGT others(39): Show GGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGCTACCAGTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02809.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034	3	240	0.0125	-46	c.-11 others(65): Show c.-115+6815_-115+6860delTACTGGTAGCAAAACAGAGATATAGA CCAATGGAACAGAACAGAGC	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding	1/2			chrX	TogoVar
DAPL1_chr2_158790317_158820990	158791941	TTCTCTCT others(39): Show TTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	360	0.0028	-46	c.-34 others(57): Show c.-3431_-3386delTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTC TTTCTTTCTTTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3375		chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)