Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHM_chrX_85856180_86052558	85911152	T T	TATATATG others(43): Show TATATATGTATATATATATATATGAATATATATATATGAATATATATATG A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0218 a0001c0001t0004g0218	1	245	0.0041	50	c.124 others(67): Show c.1244+108_1244+109insTCATATATATATTCATATATATATATTC ATATATATATATATACATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHODL_chr21_18239833_18272370	18249008	A A	AATATATA others(43): Show AATATATAATATATATATTATACATATATGTATTTATATATAATATATAA T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02451.hp2 others(13): Show HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0005g0047 a0001c0001t0005g0288 a0001c0001t0005g0291 others(12): Show a0001c0001t0005g0047 a0001c0001t0005g0288 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0299 a0001c0001t0006g0297 a0001c0001t0009g0286 a0001c0001t0012g0290 a0001c0001t0016g0294 a0001c0001t0017g0287 a0001c0001t0018g0298 a0001c0001t0019g0289 a0001c0001t0020g0292	16	402	0.0398	50	c.79+ others(65): Show c.79+3713_79+3714insATATATATATTATACATATATGTATTTATA TATAATATATAATATATATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251413	T T	TATTTATT others(43): Show TATTTATTTTAATATATAAAATAAATGTGTATTTTAATATATAAAATACA C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG00597.hp2 others(83): Show HG00280.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01884.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18967.hp2 NA18984.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0004 a0001c0001 a0001c0002 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0002t0008 a0005c0004t0001	a0001c0001t0001g0045 a0001c0001t0002g0005 a0001c0001t0002g0013 others(62): Show a0001c0001t0001g0045 a0001c0001t0002g0005 a0001c0001t0002g0013 a0001c0001t0002g0022 a0001c0001t0002g0046 a0001c0001t0002g0095 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0003g0257 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0004g0012 a0001c0001t0004g0044 a0001c0001t0004g0052 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0005g0047 a0001c0001t0005g0288 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0005g0295 a0001c0001t0005g0299 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0256 a0001c0001t0006g0297 a0001c0001t0007g0023 a0001c0001t0007g0049 a0001c0001t0007g0050 a0001c0001t0007g0094 a0001c0001t0007g0250 a0001c0001t0009g0267 a0001c0001t0009g0301 a0001c0001t0010g0254 a0001c0001t0010g0258 a0001c0001t0010g0259 a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0011g0302 a0001c0001t0012g0248 a0001c0001t0012g0290 a0001c0001t0013g0048 a0001c0001t0014g0304 a0001c0001t0014g0305 a0001c0001t0015g0249 a0001c0001t0018g0298 a0001c0001t0019g0289 a0001c0001t0020g0292 a0001c0001t0024g0262 a0001c0001t0025g0272 a0001c0001t0028g0285 a0001c0001t0030g0057 a0001c0001t0031g0303 a0001c0002t0008g0014 a0005c0004t0001g0045	86	402	0.2139	50	c.80- others(65): Show c.80-5086_80-5085insATATATAAAATAAATGTGTATTTTAATATA TAAAATACACATTTATTTTA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251513	T T	TATTTTAT others(43): Show TATTTTATTTATTTTATATATTTAATTTTATTTTAATTATATAATTAAAT A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	402	0.0025	50	c.80- others(65): Show c.80-4994_80-4993insTTTATTTATTTTATATATTTAATTTTATTT TAATTATATAATTAAATAAT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRDL1_chrX_110668856_110800817	110689564	A A	ATATATCT others(43): Show ATATATCTATATATATCTATATATCTATATATCTATATATATCTATATAT C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0098 a0001c0001t0014g0098	1	172	0.0058	50	c.779 others(65): Show c.779-762_779-761insGATATATAGATATATATAGATATATAGATA TATAGATATATATAGATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding	8/11			chrX	TogoVar
CHRNB4_chr15_78619111_78646210	78643288	T T	TGCCCAGG others(43): Show TGCCCAGGCCTGAGTGGAGTGGTGGGATCTTGGCTCACTGCAACCTTCAC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0065 a0001c0001t0010g0066	2	416	0.0048	50	c.-22 others(61): Show c.-2205_-2156dupGGTGAAGGTTGCAGTGAGCCAAGATCCCACCACT CCACTCAGGCCTGGGC	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding		2079		chr15	TogoVar
CHST15_chr10_124002668_124098598	124034575	T T	TCCCCTAA others(43): Show TCCCCTAACAGGGACCCTGGCTCCACCCCCTAAGAGGGACCCTGGCTTCA C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03139.hp2 HG03579.hp2 others(1): Show HG01192.hp1 HG03139.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0019 a0001c0001 a0001c0013 a0001c0019	a0001c0001t0002 a0001c0001t0019 a0001c0013t0014 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0013t0014 a0001c0019t0030	a0001c0001t0002g0174 a0001c0001t0019g0193 a0001c0013t0014g0107 others(1): Show a0001c0001t0002g0174 a0001c0001t0019g0193 a0001c0013t0014g0107 a0001c0019t0030g0022	4	392	0.0102	50	c.119 others(69): Show c.1190+3939_1190+3940insGTGAAGCCAGGGTCCCTCTTAGGGGG TGGAGCCAGGGTCCCTGTTAGGGG	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST15_chr10_124002668_124098598	124035126	A A	AGGGACCC others(43): Show AGGGACCCCGGCTCCGCCCCCTAACAGGGACCCCGGCTCCGCCCCCTAAC G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0333 a0001c0002t0002g0333	1	392	0.0026	50	c.119 others(69): Show c.1190+3388_1190+3389insCGTTAGGGGGCGGAGCCGGGGTCCCT GTTAGGGGGCGGAGCCGGGGTCCC	CHST15	ENSG00000182022.18	transcript	ENST00000435907.6	protein_coding	5/7			chr10	TogoVar
CHST8_chr19_33616953_33778506	33753620	T T	TCCCACCA others(43): Show TCCCACCATCCCCCCACCACCCACCATCCCCCCTCCATCCCCCACCAACC A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	254	0.0039	50	c.131 others(69): Show c.131-17764_131-17715dupCCCCTCCATCCCCCACCAACCACCCA CCATCCCCCCACCACCCACCATCC	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIBAR1_chr8_93695550_93736527	93697754	A A	ATATATAT others(43): Show ATATATATATATACATATATATACATGTATATATATACATATATATACAT G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	374	0.0027	50	c.-28 others(61): Show c.-2894_-2893insTATATATATATACATATATATACATGTATATATA TACATATATATACATG	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2795		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697763	T T	TACATATA others(43): Show TACATATATATACATGTATATATATACATATATATACATGTATATATACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	374	0.0027	50	c.-28 others(61): Show c.-2885_-2884insACATATATATACATGTATATATATACATATATAT ACATGTATATATACAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2786		chr8	TogoVar
CIBAR1_chr8_93695550_93736527	93697763	T T	TACATATA others(43): Show TACATATATATACATGTATATATATACATATATATACATGTATATATATA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0151 a0002c0002t0004g0151	1	374	0.0027	50	c.-28 others(61): Show c.-2885_-2884insACATATATATACATGTATATATATACATATATAT ACATGTATATATATAC	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding		2786		chr8	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATACACACACACACA C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	372	0.0027	50	c.111 others(67): Show c.1113+207_1113+208insGTGTGTGTGTGTGTATATATATATATAT ATATATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108569181	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATACACACACACA C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02135.hp1 HG02738.hp1 others(4): Show HG01978.hp1 HG02135.hp1 HG02738.hp1 HG03239.hp2 HG03831.hp2 HG03942.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0182 a0001c0001t0002g0202 a0001c0001t0002g0228 others(4): Show a0001c0001t0002g0182 a0001c0001t0002g0202 a0001c0001t0002g0228 a0001c0001t0002g0271 a0001c0001t0002g0283 a0001c0001t0006g0260 a0001c0001t0006g0273	7	372	0.0188	50	c.111 others(67): Show c.1113+207_1113+208insGTGTGTGTGTGTATATATATATATATAT ATATATATATATATATATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	9/20			chr3	TogoVar
CKAP2L_chr2_112731349_112769609	112732316	G G	GCAGGGGC others(43): Show GCAGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(159): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18946.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0009 a0017	a0001c0001 a0001c0004 a0001c0010 others(7): Show a0001c0001 a0001c0004 a0001c0010 a0001c0017 a0001c0019 a0003c0011 a0005c0006 a0007c0007 a0009c0012 a0017c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0004t0006 a0001c0004t0016 a0001c0010t0011 a0001c0017t0001 a0001c0019t0001 a0003c0011t0010 a0005c0006t0005 a0007c0007t0001 a0009c0012t0005 a0017c0022t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(104): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0003g0102 a0001c0001t0003g0194 a0001c0001t0013g0022 a0001c0001t0014g0028 a0001c0001t0017g0090 a0001c0001t0018g0071 a0001c0001t0022g0069 a0001c0001t0023g0075 a0001c0001t0024g0042 a0001c0001t0025g0118 a0001c0001t0026g0068 a0001c0004t0006g0007 a0001c0004t0006g0133 a0001c0004t0006g0134 a0001c0004t0006g0135 a0001c0004t0016g0136 a0001c0010t0011g0027 a0001c0010t0011g0105 a0001c0017t0001g0059 a0001c0019t0001g0060 a0003c0011t0010g0009 a0005c0006t0005g0029 a0005c0006t0005g0030 a0005c0006t0005g0111 a0007c0007t0001g0011 a0007c0007t0001g0116 a0009c0012t0005g0112 a0009c0012t0005g0113 a0017c0022t0001g0054	162	300	0.5400	50	c.64 others(61): Show c.6457_*6506dupTAAAGACACAGGCCAGTGAGACCTGGGATTTACT GGAGAACCTGCCCCTG	CKAP2L	ENSG00000169607.13	transcript	ENST00000302450.11	protein_coding		4032		chr2	TogoVar
CLCN7_chr16_1439935_1480028	1457357	G G	GTGCTCAG others(43): Show GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG03688.hp2 others(1): Show HG00280.hp2 HG00738.hp1 HG03688.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 a0001c0001t0001 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0094 a0001c0002t0002g0199 a0001c0004t0005g0356 others(1): Show a0001c0001t0001g0094 a0001c0002t0002g0199 a0001c0004t0005g0356 a0001c0004t0005g0360	4	404	0.0099	50	c.739 others(63): Show c.739-70_739-21dupTCGGTCCTTCTGGTCTCCAGGAAGGGCCGCGT CACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457457	A A	ATGCTCAG others(43): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03225.hp1 others(2): Show HG02896.hp1 HG02897.hp2 HG03225.hp1 NA18998.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0011 a0001c0001 a0001c0005 a0002c0011	a0001c0001t0001 a0001c0005t0004 a0002c0011t0018 a0001c0001t0001 a0001c0005t0004 a0002c0011t0018	a0001c0001t0001g0126 a0001c0005t0004g0267 a0001c0005t0004g0274 others(2): Show a0001c0001t0001g0126 a0001c0005t0004g0267 a0001c0005t0004g0274 a0001c0005t0004g0280 a0002c0011t0018g0271	5	404	0.0124	50	c.739 others(65): Show c.739-170_739-121dupCCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCA	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24			chr16	TogoVar
CLEC2B_chr12_9847369_9874354	9853071	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0109 a0001c0001t0062g0109	1	454	0.0022	50	c.22 others(59): Show c.228_*229insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	228		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01106.hp2 others(24): Show HG00140.hp2 HG00408.hp2 HG01106.hp2 HG01884.hp1 HG02027.hp1 HG02056.hp2 HG02165.hp1 HG02572.hp2 HG02698.hp2 HG03195.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18949.hp2 NA18951.hp2 NA18974.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19057.hp1 NA19083.hp2 NA19087.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0024 a0001c0001t0004g0033 others(12): Show a0001c0001t0004g0010 a0001c0001t0004g0024 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0042 a0001c0001t0004g0069 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0176 a0001c0001t0004g0179 a0001c0001t0004g0180	27	454	0.0595	50	c.21 others(59): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLIC5_chr6_45893456_46020860	46016093	G G	GAAGGGGA others(43): Show GAAGGGGAAGGGGAAGAGGAAGGGGAAAGGGGAAGGGGAAGAGGAAGGGG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG03453.hp2 NA18950.hp1 HG01496.hp1 HG03453.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0002 a0001c0001t0007 a0001c0001t0012	a0001c0001t0002g0216 a0001c0001t0007g0026 a0001c0001t0012g0079 a0001c0001t0002g0216 a0001c0001t0007g0026 a0001c0001t0012g0079	3	340	0.0088	50	c.-60 others(59): Show c.-601_-552dupTCCCCTTCCTCTTCCCCTTCCCCTTTCCCCTTCCTC TTCCCCTTCCCCTT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding		234		chr6	TogoVar
CLMP_chr11_123064872_123200248	123118971	T T	TTCTCTCT others(43): Show TTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT C	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	254	0.0039	50	c.29- others(67): Show c.29-21020_29-21019insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGGGAGAGAGAGAGAGAGAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123119070	T T	TCTCTCTC others(43): Show TCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCCTCTCCCTCTC C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0104	1	254	0.0039	50	c.29- others(67): Show c.29-21119_29-21118insGGAGAGGGAGAGGAGAGAGAGAGAGAGA GAGAGGAGAGAGAGAGAGAGAG	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGCGGAGC others(43): Show AGCGGAGCGGGGCGGAGCGGAGGGAGGCGGGGCGGAGCGGAGGGAGGCGG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	324	0.0031	50	c.-18 others(59): Show c.-184_-183insCCCGCCTCCCTCCGCTCCGCCCCGCCTCCCTCCGCT CCGCCCCGCTCCGC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLN6_chr15_68201992_68234728	68229767	A A	AGGGAGGC others(43): Show AGGGAGGCGGGGCGGAGGGAGGCGGGGCGGAGGGAGGCGGGGCGGAGGGA G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03486.hp1 NA18953.hp1 HG02258.hp1 HG03486.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0008 a0001c0001t0008 a0001c0002t0008	a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0002t0008g0043 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0002t0008g0043	3	324	0.0093	50	c.-18 others(59): Show c.-184_-183insCTCCCTCCGCCCCGCCTCCCTCCGCCCCGCCTCCCT CCGCCCCGCCTCCC	CLN6	ENSG00000128973.13	transcript	ENST00000249806.11	protein_coding		40		chr15	TogoVar
CLNK_chr4_10481395_10689768	10654384	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0014 a0001c0001t0019g0014	1	320	0.0031	50	c.11+ others(67): Show c.11+13474_11+13475insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	CLNK	ENSG00000109684.16	transcript	ENST00000226951.11	protein_coding	2/18			chr4	TogoVar
CLSTN2_chr3_139930185_140582397	139955112	C C	CTATATAT others(43): Show CTATATATATATATATATATATATGGCAATATTGCTATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0039 a0002c0002t0011g0039	1	110	0.0091	50	c.109 others(69): Show c.109+19652_109+19653insGGCAATATTGCTATATATATATATAT ATATATATATATATATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAGAGAG others(43): Show AGAGAGAGAAAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAA G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	414	0.0024	50	c.424 others(63): Show c.424-67_424-66insGAGAGAGAAAGAAAGAGAAAAGAAGAAAGAGA AAGAAAGAAAAGAAAAAG	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CMC1_chr3_28236619_28330142	28300649	A A	ATCCCTTT others(43): Show ATCCCTTTCCCTCCCTTTCCCTCCCTTTCCCTCCCTTTCCCTCCCTTTCC C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	338	0.0030	50	c.110 others(69): Show c.110-15678_110-15629dupTTCCCTCCCTTTCCCTCCCTTTCCCT CCCTTTCCCTCCCTTTCCCTCCCT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNGA2_chrX_151729746_151750564	151742929	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATACATATA C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0069 a0003c0003t0012g0069	1	336	0.0030	50	c.590 others(65): Show c.590-152_590-151insATATATATATATATATATATATATATATAT ACATATACATATATATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151742962	A A	ATATATAT others(43): Show ATATATATGTATATATATATATATATACACATATATATGTATATATATAT G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	336	0.0030	50	c.590 others(65): Show c.590-124_590-123insGTATATATATATATATATACACATATATAT GTATATATATATGTATATAT	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNGA2_chrX_151729746_151750564	151743028	G G	GTGTGTGT others(43): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATACACAC A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG01346.hp1 others(1): Show HG00741.hp1 HG01175.hp2 HG01346.hp1 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0013 a0001c0004t0003g0070 a0001c0004t0003g0013 a0001c0004t0003g0070	4	336	0.0119	50	c.590 others(63): Show c.590-65_590-64insTGTGTGTGTATATATATATATATATATATATA TATATATATATACACACA	CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	6/6			chrX	TogoVar
CNGB1_chr16_57877340_57976128	57879787	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTTCTTTCTTTTTCTTTCTTTCTTTCCTTTCTTT C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0024 a0024	a0024c0047 a0024c0047	a0024c0047t0034 a0024c0047t0034	a0024c0047t0034g0350 a0024c0047t0034g0350	1	360	0.0028	50	c.43 others(61): Show c.4376_*4377insGAAAGAAAGGAAAGAAAGAAAGAAAAAGAAAGAA AAGAAAGAAAGAAAGA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2552		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0008 a0002c0005t0008	a0002c0005t0008g0025 a0002c0005t0008g0025	1	360	0.0028	50	c.43 others(61): Show c.4364_*4365insAAAGAAGGAAAGAAAGAAAGAAAGGAAAGAAAGA AAAAGAAAGAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(43): Show CTTTCTTTTTCTTTCTTTCCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA18980.hp2 NA19063.hp2 HG03491.hp1 NA18980.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0207 a0001c0001t0001g0262 a0001c0002t0001g0052 a0001c0001t0001g0207 a0001c0001t0001g0262 a0001c0002t0001g0052	3	360	0.0083	50	c.43 others(61): Show c.4364_*4365insAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGGA AAGAAAGAAAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNKSR3_chr6_154382515_154515685	154382571	A A	AGGGAGGG others(43): Show AGGGAGGGCAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03579.hp2 HG02922.hp2 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0066 a0001c0002t0020 a0001c0002t0066	a0001c0002t0020g0175 a0001c0002t0020g0176 a0001c0002t0066g0043 a0001c0002t0020g0175 a0001c0002t0020g0176 a0001c0002t0066g0043	3	342	0.0088	50	c.23 others(63): Show c.23782_*23783insCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTGCCCTCCC	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4943		chr6	TogoVar
CNOT1_chr16_58514951_58634826	58516148	G G	GCGGGGCG others(43): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0125 a0001c0007t0001g0131 a0001c0007t0001g0125 a0001c0007t0001g0131	2	308	0.0065	50	c.48 others(61): Show c.4809_*4810insAACCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCC GCCCCGCCCCGCCCCG	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding		3802		chr16	TogoVar
CNOT2_chr12_70238433_70359993	70281816	T T	TTAAATTT others(43): Show TTAAATTTAAACTCATTTAAATTAAATAAATTTAAACTCATTTAAATTAA A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG02109.hp2 others(10): Show HG01256.hp1 HG01261.hp2 HG02109.hp2 HG02451.hp2 HG02809.hp1 HG02818.hp1 HG03209.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG03942.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0000 a0001	a0000c0003 a0001c0002 a0000c0003 a0001c0002	a0000c0003t0001 a0001c0002t0001 a0000c0003t0001 a0001c0002t0001	a0000c0003t0001g0189 a0000c0003t0001g0190 a0000c0003t0001g0191 others(10): Show a0000c0003t0001g0189 a0000c0003t0001g0190 a0000c0003t0001g0191 a0000c0003t0001g0192 a0000c0003t0001g0193 a0000c0003t0001g0194 a0000c0003t0001g0195 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212	13	280	0.0464	50	c.48+ others(65): Show c.48+3550_48+3599dupAAACTCATTTAAATTAAATAAATTTAAACT CATTTAAATTAAATAAATTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT6_chr5_180489379_180583358	180533312	C C	CTATATGT others(43): Show CTATATGTATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	334	0.0030	50	c.112 others(67): Show c.112+3929_112+3930insGTATATATATATATATATATATATATAT ATATATATATATATATATATAT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTLN_chr9_17130040_17508923	17312364	T T	TATATTAT others(43): Show TATATTATATATATATATATATAATATATATATATATTATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0146 a0004c0003t0001g0146	1	218	0.0046	50	c.134 others(69): Show c.1341+3112_1341+3113insATATTATATATATATATATATAATAT ATATATATATTATATATATATATA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25			chr9	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATAGAGAGAGAGAGAGAGA G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	116	0.0086	50	c.-89 others(67): Show c.-89+1478_-89+1479insTATATATATATATATATATATATATATA TATAGAGAGAGAGAGAGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99369217	A A	AATATATA others(43): Show AATATATATATAATATATATAATATAACATATAATATATATTATATATAA T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG02602.hp2 others(7): Show HG00733.hp2 HG00735.hp2 HG02602.hp2 HG03041.hp1 HG03471.hp2 HG06807.hp1 NA18957.hp2 NA19000.hp1 NA19070.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0009c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0002c0002t0022 a0003c0003t0002 a0006c0006t0013 a0006c0006t0014 a0009c0012t0008	a0001c0001t0001g0053 a0001c0001t0004g0029 a0001c0001t0005g0048 others(7): Show a0001c0001t0001g0053 a0001c0001t0004g0029 a0001c0001t0005g0048 a0001c0001t0011g0062 a0001c0001t0014g0016 a0002c0002t0022g0013 a0003c0003t0002g0002 a0006c0006t0013g0025 a0006c0006t0014g0058 a0009c0012t0008g0026	10	66	0.1515	50	c.-71 others(69): Show c.-71+43744_-71+43745insATATATATAATATAACATATAATATA TATTATATATAATATATATATATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245304	A A	ATATATAA others(43): Show ATATATAACATATATATATATAACATATATATATATAACATATATATATA T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	232	0.0043	50	c.358 others(69): Show c.358+17317_358+17318insACATATATATATATAACATATATATA TATAACATATATATATATTATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP3B_chr9_41885536_42134426	41934112	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATACACACA C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	108	0.0093	50	c.223 others(69): Show c.2237+4131_2237+4132insGTGTGTGTATATATATATATATATAT ATATATATATATATATATATATAT	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	14/23			chr9	TogoVar
CNTNAP4_chr16_76272401_76565757	76408351	C C	CTTAACAA others(43): Show CTTAACAATTAACAGTTGTTAATCTATTAACAATTAACAGTTGTTAATCT A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03209.hp1 HG02257.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0003c0006t0006 a0001c0001t0004 a0003c0006t0006	a0001c0001t0004g0191 a0003c0006t0006g0205 a0001c0001t0004g0191 a0003c0006t0006g0205	2	274	0.0073	50	c.391 others(69): Show c.391-19087_391-19038dupGTTGTTAATCTATTAACAATTAACAG TTGTTAATCTATTAACAATTAACA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470482	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02145.hp1 HG03486.hp1 HG01106.hp1 HG02145.hp1 HG03486.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0005 a0003c0003 a0002c0002 a0002c0005 a0003c0003	a0002c0002t0023 a0002c0005t0002 a0003c0003t0011 a0002c0002t0023 a0002c0005t0002 a0003c0003t0011	a0002c0002t0023g0265 a0002c0005t0002g0101 a0003c0003t0011g0246 a0002c0002t0023g0265 a0002c0005t0002g0101 a0003c0003t0011g0246	3	274	0.0110	50	c.165 others(69): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76470495	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0060 a0005c0008t0001g0060	1	274	0.0037	50	c.165 others(69): Show c.1655+2974_1655+2975insTATATATATATATATATATATATATA TATATATATATATATATATATTTA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	C C	CTTTCTTT others(43): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC T	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0221 a0005c0008t0001g0221	1	274	0.0037	50	c.275 others(67): Show c.2755+473_2755+522dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124510273	C C	CTATATCT others(43): Show CTATATCTATATATATATCTATATATCTATATATATATATCTATATATCT A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0041	1	64	0.0156	50	c.132 others(69): Show c.1327+5728_1327+5729insATATATCTATATATCTATATATATAT ATCTATATATCTATATATCTATAT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTCT others(43): Show CTTTTTCTTTTTCTCTTTGTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0055 a0001c0002t0016g0055	1	64	0.0156	50	c.175 others(69): Show c.1756+8209_1756+8210insCTTTTTCTCTTTGTTTTCTTTTTTCT TTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805323	C C	CTATATAT others(43): Show CTATATATATATATATATATTTATATATATATATAAATATATATATATAA A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0072 a0003c0004t0014g0072	1	212	0.0047	50	c.41+ others(67): Show c.41+35832_41+35833insTTTATATATATATATTTATATATATATA TAAATATATATATATATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar

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