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
KLHL23_chr2_169728832_169756878	169740791	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0008 a0001c0001t0047g0008	1	392	0.0026	35	c.121 others(52): Show c.1214-593_1214-592insTATATATATATATATATATATATATATA TATATAA	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL31_chr6_53642916_53670756	53665964	A A	AAAAGAAA others(28): Show AAAAGAAAAGAAAAGAAAAGAAAGAAAGAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0014 a0001c0002t0020g0014	1	347	0.0029	35	c.-39 others(44): Show c.-398_-397insCTTTCCTTCTTTCTTTCTTTTCTTTTCTTTTCTTT	KLHL31	ENSG00000124743.6	transcript	ENST00000370905.4	protein_coding		209		chr6	TogoVar
KLHL32_chr6_96919728_97145753	96973730	C C	CTCTTTTT others(28): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp1 HG02257.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0228 a0001c0001t0013g0229 a0001c0001t0013g0228 a0001c0001t0013g0229	2	80	0.0250	35	c.24- others(50): Show c.24-2266_24-2265insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLHL36_chr16_84643511_84672686	84644155	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0088 a0001c0001t0031g0088	1	411	0.0024	35	c.-45 others(46): Show c.-4511_-4510insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA A	KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding		4355		chr16	TogoVar
KLHL8_chr4_87155103_87225618	87224732	C C	CACATGTG others(28): Show CACATGTGGATGGCTATGTTTTCTGACCTTAGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	362	0.0028	35	c.-45 others(46): Show c.-4501_-4467dupCAGCCTAAGGTCAGAAAACATAGCCATCCACATG T	KLHL8	ENSG00000145332.14	transcript	ENST00000273963.10	protein_coding		4115		chr4	TogoVar
KLK14_chr19_51072897_51087887	51079029	T T	TGCCGACC others(28): Show TGCCGACCCAGGAGTCCAGCCCCAGTACCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02622.hp2 others(16): Show HG01433.hp2 HG02109.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03927.hp2 NA19043.hp1 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0015 a0003c0003t0002g0025 others(4): Show a0003c0003t0002g0012 a0003c0003t0002g0015 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0033 a0003c0003t0002g0045 a0003c0003t0002g0080	19	442	0.0430	35	c.467 others(48): Show c.467-79_467-78insGGGAGGAGGTACTGGGGCTGGACTCCTGGGTC GGC	KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	4/5			chr19	TogoVar
KLK14_chr19_51072897_51087887	51079032	C C	CGACCCAG others(28): Show CGACCCAGGAGTCCAGCCCCAGTACCTCCTCCCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00621.hp1 others(91): Show HG00140.hp2 HG00323.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp2 NA18944.hp1 NA18962.hp2 NA18971.hp2 NA18991.hp1 NA18992.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp2 NA19060.hp2 NA19081.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0011 a0012 a0017	a0001c0001 a0002c0002 a0002c0017 others(7): Show a0001c0001 a0002c0002 a0002c0017 a0003c0003 a0004c0004 a0006c0010 a0007c0009 a0011c0016 a0012c0018 a0017c0019	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0017t0001 a0003c0003t0001 a0004c0004t0001 a0006c0010t0002 a0007c0009t0002 a0011c0016t0002 a0012c0018t0001 a0017c0019t0001	a0001c0001t0001g0038 a0002c0002t0001g0005 a0002c0002t0001g0007 others(26): Show a0001c0001t0001g0038 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0063 a0002c0002t0001g0081 a0002c0002t0001g0090 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0017t0001g0062 a0003c0003t0001g0044 a0004c0004t0001g0014 a0004c0004t0001g0061 a0004c0004t0001g0089 a0006c0010t0002g0032 a0007c0009t0002g0039 a0011c0016t0002g0088 a0012c0018t0001g0049 a0017c0019t0001g0065	94	423	0.2222	35	c.467 others(48): Show c.467-82_467-81insTGAGGGAGGAGGTACTGGGGCTGGACTCCTGG GTC	KLK14	ENSG00000129437.11	transcript	ENST00000650543.2	protein_coding	4/5			chr19	TogoVar
KLK5_chr19_50938303_50958038	50945084	T T	TCCTTCCT others(28): Show TCCTTCCTTCCTTCCTTCCTTTCTCTCTCCTTCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	196	0.0051	35	c.727 others(52): Show c.727-1299_727-1298insGAGGAAGGAGAGAGAAAGGAAGGAAGGA AGGAAGG	KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding	5/5			chr19	TogoVar
KLK9_chr19_50997508_51014592	51013347	T T	TGGGGGGG others(28): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	436	0.0023	35	c.-38 others(46): Show c.-3801_-3800insCCCCCCCCTCCCCCCCCCCCCCCCCCCCCCCCCC C	KLK9	ENSG00000213022.6	transcript	ENST00000594211.2	protein_coding		3756		chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607405	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	423	0.0024	35	c.85+ others(48): Show c.85+349_85+350insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KMT2E_chr7_105009205_105120019	105087284	G G	GATATATA others(28): Show GATATATATAATATATATAATATATAAATATGATAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA18955.hp1 NA18965.hp2 others(8): Show HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp2 NA19003.hp2 NA19010.hp1 NA19057.hp1 NA19083.hp2 NA19087.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0010c0017 a0001c0002 a0010c0017	a0001c0002t0003 a0010c0017t0003 a0001c0002t0003 a0010c0017t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0007 others(8): Show a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0003g0008 a0001c0002t0003g0009 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0180 a0010c0017t0003g0013	11	186	0.0591	35	c.135 others(54): Show c.1359-2720_1359-2719insTATAATATATATAATATATAAATATG ATATATATA	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KNDC1_chr10_133155219_133231412	133159947	C C	CGCCCCGC others(28): Show CGCCCCGCCCCCTCCCGGGCCCCGCCCCCACCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0025 a0002c0006t0025	a0002c0006t0025g0276 a0002c0006t0025g0276	1	108	0.0093	35	c.-52 others(44): Show c.-521_-520insGCCCCGCCCCCTCCCGGGCCCCGCCCCCACCCCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		271		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133206094	G G	GGGGGTGA others(28): Show GGGGGTGATGCAGCGATATGCTCACTCGCGATTGGC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	330	0.0030	35	c.338 others(52): Show c.3388-590_3388-589insGGGTGATGCAGCGATATGCTCACTCGCG ATTGGCG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA19074.hp2 HG03579.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0172 a0001c0002t0009g0091 a0001c0001t0001g0172 a0001c0002t0009g0091	2	49	0.0408	35	c.-21 others(50): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRI1_chr19_10548085_10571010	10555635	A A	ACCCCCCC others(28): Show ACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	404	0.0025	35	c.161 others(52): Show c.1618-287_1618-286insGGAGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGG	KRI1	ENSG00000129347.21	transcript	ENST00000312962.12	protein_coding	16/18			chr19	TogoVar
KRT4_chr12_52801549_52819116	52812619	G G	GGCTGGGG others(28): Show GGCTGGGGATGAGGGTGAGCTATAGGGCAGTTATTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	468	0.0021	35	c.463 others(50): Show c.463-643_463-642insTAATAACTGCCCTATAGCTCACCCTCATCC CCAGC	KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	1/8			chr12	TogoVar
KRT7_chr12_52228243_52253921	52239280	A A	ATGGCTCA others(28): Show ATGGCTCACTTTTCTGTTCTTATCAGCCTGCCCAGC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	438	0.0023	35	c.693 others(50): Show c.693+505_693+506insTGGCTCACTTTTCTGTTCTTATCAGCCTGC CCAGC	KRT7	ENSG00000135480.17	transcript	ENST00000331817.6	protein_coding	4/8			chr12	TogoVar
KRTAP19-1_chr21_30474706_30485367	30484294	T T	TATGTAAT others(28): Show TATGTAATATTTAAATATATACTCCTATATATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(200): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0003c0005t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0003g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0003g0000 a0003c0005t0001g0000	203	416	0.4880	35	c.-39 others(46): Show c.-3978_-3977insTTAAATATATAGGAGTATATATTTAAATATTACA T	KRTAP19-1	ENSG00000184351.8	transcript	ENST00000390689.3	protein_coding		3928		chr21	TogoVar
KRTAP19-1_chr21_30474706_30485367	30484386	T T	TCCTATAT others(28): Show TCCTATATATTTAAATGTAATATTTAAATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	35	c.-40 others(46): Show c.-4070_-4069insTGTATATATTTAAATATTACATTTAAATATATAG G	KRTAP19-1	ENSG00000184351.8	transcript	ENST00000390689.3	protein_coding		4020		chr21	TogoVar
KRTAP19-2_chr21_30482043_30492436	30484294	T T	TATGTAAT others(28): Show TATGTAATATTTAAATATATACTCCTATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(200): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18992.hp1 NA18993.hp1 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0003c0003t0002 a0001c0001t0002 a0001c0001t0003 a0003c0003t0002	a0001c0001t0002g0000 a0001c0001t0003g0000 a0003c0003t0002g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0003c0003t0002g0000	203	413	0.4915	35	c.28 others(46): Show c.2895_*2896insTTAAATATATAGGAGTATATATTTAAATATTACA T	KRTAP19-2	ENSG00000186965.5	transcript	ENST00000334055.5	protein_coding		2748		chr21	TogoVar
KRTAP19-2_chr21_30482043_30492436	30484386	T T	TCCTATAT others(28): Show TCCTATATATTTAAATGTAATATTTAAATATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	418	0.0024	35	c.28 others(46): Show c.2803_*2804insTGTATATATTTAAATATTACATTTAAATATATAG G	KRTAP19-2	ENSG00000186965.5	transcript	ENST00000334055.5	protein_coding		2656		chr21	TogoVar
KRTAP19-2_chr21_30482043_30492436	30489372	T T	TCTCTTTT others(28): Show TCTCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	35	c.-20 others(46): Show c.-2025_-2024insGAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAGA G	KRTAP19-2	ENSG00000186965.5	transcript	ENST00000334055.5	protein_coding		1937		chr21	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583918	G G	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	418	0.0024	35	c.49 others(44): Show c.494_*495insACACACACACACACACACACACACACACACACACA	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		423		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522574	C C	CGCTGGTG others(28): Show CGCTGGTGACATGTTGCCGTATTCTTGGGCCAGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	456	0.0022	35	c.-47 others(46): Show c.-4727_-4726insGCTGGTGACATGTTGCCGTATTCTTGGGCCAGTA G	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4692		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522609	G G	GGCTGGTG others(28): Show GGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(165): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18993.hp2 NA18997.hp2 NA19001.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0011	a0001c0001 a0003c0003 a0006c0007 others(1): Show a0001c0001 a0003c0003 a0006c0007 a0011c0011	a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0003c0003t0001 a0003c0003t0006 a0006c0007t0001 a0011c0011t0001	a0001c0001t0001g0000 a0001c0001t0006g0000 a0003c0003t0001g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0003c0003t0001g0000 a0003c0003t0006g0000 a0006c0007t0001g0000 a0011c0011t0001g0000	168	441	0.3810	35	c.-46 others(46): Show c.-4692_-4691insGCTGGTGACACGTTGCCGTATTCTTGGGCGAGTA C	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4657		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522656	G G	GTTGCCGT others(28): Show GTTGCCGTATTCTTGGGCGAGTACGCTGGTGACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	458	0.0022	35	c.-46 others(46): Show c.-4645_-4644insTTGCCGTATTCTTGGGCGAGTACGCTGGTGACAC A	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4610		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522690	C C	CGTTGCCG others(28): Show CGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG02055.hp2 others(35): Show HG00642.hp2 HG00733.hp1 HG02055.hp2 HG02145.hp2 HG02572.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG03139.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18984.hp2 NA18987.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19067.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	38	458	0.0830	35	c.-46 others(46): Show c.-4611_-4610insGTTGCCGTATTCTTGGGCGAGTACGCTGGTGACA T	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4576		chr11	TogoVar
KRTAP5-7_chr11_71522267_71533669	71522699	A A	ATTCTTGG others(28): Show ATTCTTGGGCGAGTACGCTGGTGACACGTTGCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	458	0.0022	35	c.-46 others(46): Show c.-4602_-4601insTTCTTGGGCGAGTACGCTGGTGACACGTTGCCGT G	KRTAP5-7	ENSG00000244411.4	transcript	ENST00000398536.6	protein_coding		4567		chr11	TogoVar
KRTAP9-6_chr17_41260378_41270860	41263246	G G	GGAAGGAA others(28): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	248	0.0040	35	c.-21 others(46): Show c.-2132_-2131insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA A	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		2131		chr17	TogoVar
KRTAP9-6_chr17_41260378_41270860	41263263	A A	AGGAAGGA others(28): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	247	0.0040	35	c.-21 others(46): Show c.-2115_-2114insGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAA G	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		2114		chr17	TogoVar
KSR1_chr17_27451448_27631435	27525991	A A	ACTTTTCT others(28): Show ACTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03927.hp1 HG00099.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0009 a0001c0002 a0002c0009	a0001c0002t0001 a0002c0009t0006 a0001c0002t0001 a0002c0009t0006	a0001c0002t0001g0169 a0002c0009t0006g0172 a0001c0002t0001g0169 a0002c0009t0006g0172	2	169	0.0118	35	c.232 others(54): Show c.232-24557_232-24523dupTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KSR1_chr17_27451448_27631435	27526044	T T	TTTCTTTT others(28): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01192.hp2 HG01169.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0003 a0001c0001t0002 a0001c0007t0003	a0001c0001t0002g0032 a0001c0007t0003g0131 a0001c0001t0002g0032 a0001c0007t0003g0131	2	104	0.0192	35	c.232 others(54): Show c.232-24523_232-24522insTCTTTTCTTTTCTTTTCTTTTCTTTC TCTCTCTCT	KSR1	ENSG00000141068.17	transcript	ENST00000644974.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
KTN1_chr14_55575207_55689579	55646460	T T	TTTTCCTT others(28): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01952.hp2 others(7): Show HG01070.hp2 HG01071.hp2 HG01952.hp2 HG02273.hp1 HG02698.hp2 HG02970.hp1 HG03927.hp2 NA18994.hp1 NA19001.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0147 others(7): Show a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0235 a0001c0001t0001g0307 a0001c0001t0004g0223	10	130	0.0769	35	c.217 others(52): Show c.2173-460_2173-426dupTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
L1CAM_chrX_153856516_153891173	153859490	A A	AGGAAGGA others(28): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0146 a0001c0001t0004g0146	1	273	0.0037	35	c.31 others(46): Show c.3172_*3173insCTTCCCTTTCCTTCCTTCCTTCCTTCCTTCCTTC C	L1CAM	ENSG00000198910.14	transcript	ENST00000370060.7	protein_coding		2025		chrX	TogoVar
L3MBTL4_chr18_5949717_6419911	6185960	C C	CTTTATTT others(28): Show CTTTATTTTATTTTACTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	57	0.0175	35	c.982 others(54): Show c.982-14019_982-14018insATAAAATAAAATAAAATAAAGTAAAA TAAAATAAA	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	12/18			chr18	TogoVar
LACC1_chr13_43874904_43898932	43879768	G G	GTGAGGCG others(28): Show GTGAGGCGGGGCGAGGCGGGGCGAGGTGGGCGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02717.hp1 others(2): Show HG02109.hp1 HG02486.hp2 HG02717.hp1 HG03041.hp2 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	5	382	0.0131	35	c.-38 others(44): Show c.-386_-385insTGAGGCGGGGCGAGGCGGGGCGAGGTGGGCGAGGT	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		135		chr13	TogoVar
LACC1_chr13_43874904_43898932	43879800	A A	AGGCGGGG others(28): Show AGGCGGGGCGGGGCGAGGCGGGGCGAGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	377	0.0027	35	c.-35 others(44): Show c.-354_-353insGGCGGGGCGGGGCGAGGCGGGGCGAGGCGGGGCGG	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		103		chr13	TogoVar
LACTB2_chr8_70632266_70674185	70668748	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	281	0.0036	35	c.122 others(50): Show c.122+250_122+251insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	LACTB2	ENSG00000147592.9	transcript	ENST00000276590.5	protein_coding	1/6			chr8	TogoVar
LAMA4_chr6_112102931_112259567	112190871	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0173 a0002c0006t0002g0173	1	283	0.0035	35	c.718 others(50): Show c.718+764_718+765insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62318299	G G	GGGGGAGG others(28): Show GGGGGAGGAAGAGGAGGAGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0102 a0102	a0102c0045 a0102c0045	a0102c0045t0001 a0102c0045t0001	a0102c0045t0001g0022 a0102c0045t0001g0022	1	182	0.0055	35	c.723 others(52): Show c.7239+154_7239+155insTCCTCCTCTTCCTCCCCCTCCTCCTCTT CCTCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321452	T T	TGGGGCCA others(28): Show TGGGGCCAGTGGAGGGGTGGGGTCAGTGGGGGAGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02976.hp2 others(2): Show HG02109.hp1 HG02647.hp1 HG02976.hp2 HG03471.hp2 NA18906.hp2	a0021 a0027 a0076 a0021 a0027 a0076	a0021c0125 a0021c0134 a0027c0018 others(1): Show a0021c0125 a0021c0134 a0027c0018 a0076c0126	a0021c0125t0001 a0021c0134t0001 a0027c0018t0001 others(1): Show a0021c0125t0001 a0021c0134t0001 a0027c0018t0001 a0076c0126t0001	a0021c0125t0001g0064 a0021c0134t0001g0063 a0027c0018t0001g0156 others(2): Show a0021c0125t0001g0064 a0021c0134t0001g0063 a0027c0018t0001g0156 a0027c0018t0001g0157 a0076c0126t0001g0065	5	152	0.0329	35	c.649 others(52): Show c.6497-563_6497-562insGCCTCCCCCACTGACCCCACCCCTCCAC TGGCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62332926	T T	TGCAGGAG others(28): Show TGCAGGAGGCAGGAGGCAGGAGGCAGGAGGCAGGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01358.hp1 others(2): Show HG00673.hp1 HG01070.hp2 HG01358.hp1 HG02257.hp2 HG02280.hp1	a0001 a0002 a0033 others(2): Show a0001 a0002 a0033 a0044 a0064	a0001c0005 a0002c0124 a0033c0121 others(2): Show a0001c0005 a0002c0124 a0033c0121 a0044c0120 a0064c0122	a0001c0005t0001 a0002c0124t0001 a0033c0121t0001 others(2): Show a0001c0005t0001 a0002c0124t0001 a0033c0121t0001 a0044c0120t0006 a0064c0122t0001	a0001c0005t0001g0160 a0002c0124t0001g0025 a0033c0121t0001g0078 others(2): Show a0001c0005t0001g0160 a0002c0124t0001g0025 a0033c0121t0001g0078 a0044c0120t0006g0074 a0064c0122t0001g0023	5	43	0.1163	35	c.328 others(52): Show c.3282+163_3282+164insCTCCTGCCTCCTGCCTCCTGCCTCCTGC CTCCTGC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	26/79			chr20	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	1	292	0.0034	35	c.888 others(52): Show c.888+2800_888+2801insATATATATATATATATATATATATATAT ATTTTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149574	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	292	0.0034	35	c.888 others(52): Show c.888+2800_888+2801insATATATATATATATATATATATATATAT ATATTTT	LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5			chr3	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0028 a0001c0003t0003g0028	1	255	0.0039	35	c.218 others(50): Show c.218+246_218+247insATATATATATATATATATATATATATATGT ATGTA	LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12			chr4	TogoVar
LAPTM4A_chr2_20027650_20056628	20046761	T T	TATATAAT others(28): Show TATATAATATAATATATAAATATATATATAATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp2 others(33): Show HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG01106.hp2 HG01192.hp1 HG01361.hp1 HG01975.hp1 HG02040.hp1 HG02056.hp2 HG02132.hp2 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA18939.hp1 NA18948.hp1 NA18956.hp2 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18985.hp2 NA18989.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19081.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0045 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164	36	411	0.0876	35	c.111 others(52): Show c.111+4614_111+4648dupTTATATTATATATATATTTATATATTAT ATTATAT	LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6			chr2	TogoVar
LAPTM4B_chr8_97770788_97858013	97834144	G G	GAAAAAAA others(28): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	196	0.0051	35	c.603 others(52): Show c.603+9005_603+9006insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	LAPTM4B	ENSG00000104341.17	transcript	ENST00000521545.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
LARGE1_chr22_33267509_33925476	33922272	G G	GGTGGGGT others(28): Show GGTGGGGTGGGGGGTGGGGGGTGGGGGGTGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0108 a0001c0006t0029g0108	1	19	0.0526	35	c.-23 others(46): Show c.-2361_-2360insACCCCCCACCCCCCACCCCCCACCCCCCACCCCA C	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding		1797		chr22	TogoVar
LARP1B_chr4_128056312_128216988	128110676	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	9	0.1111	35	c.988 others(52): Show c.988+3380_988+3381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1_chr5_154750377_154822605	154799316	C C	CCCTGTTT others(28): Show CCCTGTTTGTGCAAGTGTTCTCTAGAGCAGATTCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	302	0.0033	35	c.137 others(52): Show c.1378-243_1378-242insCTGCCTGTTTGTGCAAGTGTTCTCTAGA GCAGATT	LARP1	ENSG00000155506.19	transcript	ENST00000518297.6	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr5	TogoVar

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